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: CA337215384
Gene: PNCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153685145G>A , CM000685.2:g.153685145G>A GRCh38
NC_000023.10:g.152950600G>A , CM000685.1:g.152950600G>A GRCh37
NC_000023.9:g.152603794G>A NCBI36
NG_012016.1:g.1849G>A
NG_012016.2:g.1849G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419804.5:c.-3+2286C>T ENSP00000400671.1:n.-3+2286C>T
ENST00000423545.1:c.-3+1356C>T ENSP00000395360.1:n.-3+1356C>T
ENST00000425526.5:c.-3+1356C>T ENSP00000407173.1:n.-3+1356C>T
ENST00000458354.5:c.-3+3670C>T ENSP00000401542.1:n.-3+3670C>T
ENST00000460106.1:n.292+1356C>T
ENST00000488994.5:n.288+1356C>T
XM_006724809.2:c.-3+1356C>T XP_006724872.1:n.-3+1356C>T
XM_011531107.1:c.304+2286C>T XP_011529409.1:n.304+2286C>T
XM_006724809.3:c.-3+1356C>T XP_006724872.1:n.-3+1356C>T
XM_011531107.2:c.-3+2286C>T XP_011529409.2:n.-3+2286C>T
NM_001366975.1:c.-3+1356C>T NP_001353904.1:n.-3+1356C>T
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