This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Canonical Allele Identifier: CA2213432422
Gene: PALB2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636261C= , CM000678.2:g.23636261C= GRCh38
NC_000016.9:g.23647582C= , CM000678.1:g.23647582C= GRCh37
NC_000016.8:g.23555083C= NCBI36
NG_007406.1:g.10097G= , LRG_308:g.10097G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.291G= ENSP00000460666.3:p.Lys97=
ENST00000565038.2:c.211+1589G= ENSP00000459882.2:n.211+1589G=
ENST00000566069.6:c.285G= ENSP00000459237.2:p.Lys95=
ENST00000697377.2:c.291G= ENSP00000513286.2:p.Lys97=
ENST00000697379.2:c.291G= ENSP00000513287.2:p.Lys97=
ENST00000561514.2:c.-601G= ENSP00000460666.2:n.-601G=
ENST00000697374.1:c.-601G= ENSP00000513284.1:n.-601G=
ENST00000697375.1:n.1632G=
ENST00000697376.1:c.-601G= ENSP00000513285.1:n.-601G=
ENST00000697377.1:c.-601G= ENSP00000513286.1:n.-601G=
ENST00000697378.1:n.805G=
ENST00000697379.1:c.-601G= ENSP00000513287.1:n.-601G=
ENST00000697382.1:c.-601G= ENSP00000513288.1:n.-601G=
ENST00000697383.1:c.48+4849G= ENSP00000513289.1:n.48+4849G=
ENST00000697384.1:n.439G=
ENST00000261584.9:c.285G= MANE Select ENSP00000261584.4:p.Lys95=
ENST00000261584.8:c.285G= ENSP00000261584.4:p.Lys95=
ENST00000565038.1:c.86+1589G=
ENST00000567003.1:n.563G=
ENST00000568219.5:c.-601G= ENSP00000454703.2:n.-601G=
NM_024675.3:c.285G= , LRG_308t1:c.285G= NP_078951.2:p.Lys95=
XM_011545946.1:c.291G= XP_011544248.1:p.Lys97=
XM_011545947.1:c.291G= XP_011544249.1:p.Lys97=
XM_011545948.1:c.-601G= XP_011544250.1:n.-601G=
XR_950851.1:n.1081G=
XM_011545946.2:c.291G= XP_011544248.1:p.Lys97=
XM_011545947.2:c.291G= XP_011544249.1:p.Lys97=
XM_011545948.2:c.-601G= XP_011544250.1:n.-601G=
XM_017023671.1:c.291G= XP_016879160.1:p.Lys97=
XM_017023672.2:c.285G= XP_016879161.1:p.Lys95=
XM_017023673.2:c.285G= XP_016879162.1:p.Lys95=
NM_024675.4:c.285G= MANE Select NP_078951.2:p.Lys95=
Search 100 bp 5'
Search 100 bp 3'