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: CA1879976383
Gene: FPGS HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813044G= , CM000671.2:g.127813044G= GRCh38
NC_000009.11:g.130575323G= , CM000671.1:g.130575323G= GRCh37
NC_000009.10:g.129615144G= NCBI36
NG_009551.1:g.46725C= , LRG_589:g.46725C=
NG_023245.1:g.15170G=

Transcript Alleles

HGVS Amino-acid Change
NM_004957.6:c.1355-151G= MANE Select NP_004948.4:n.1355-151G=
ENST00000373247.7:c.1355-151G= MANE Select ENSP00000362344.2:n.1355-151G=
NM_001018078.2:c.1205-151G= NP_001018088.1:n.1205-151G=
NM_001288803.1:c.1277-151G= NP_001275732.1:n.1277-151G=
NM_004957.5:c.1355-151G= NP_004948.4:n.1355-151G=
NR_110170.1:n.1403-151G=
ENST00000373225.7:c.1205-151G= ENSP00000362322.3:n.1205-151G=
ENST00000373228.5:c.*12-151G= ENSP00000362325.1:n.*12-151G=
ENST00000373247.6:c.1355-151G= ENSP00000362344.2:n.1355-151G=
ENST00000393706.6:c.1277-151G= ENSP00000377309.2:n.1277-151G=
ENST00000460181.5:n.1343-151G=
ENST00000467826.5:n.581-151G=
ENST00000475270.1:n.181-151G=
ENST00000488506.5:n.560-151G=
ENST00000630236.2:c.*79-151G= ENSP00000486766.1:n.*79-151G=
XM_005251864.2:c.1355-151G= XP_005251921.1:n.1355-151G=
XM_005251864.4:c.1355-151G= XP_005251921.1:n.1355-151G=
XM_011518437.1:c.1205-151G= XP_011516739.1:n.1205-151G=
XM_011518438.1:c.1205-151G= XP_011516740.1:n.1205-151G=
XM_011518439.1:c.512-151G= XP_011516741.1:n.512-151G=
XM_011518439.2:c.512-151G= XP_011516741.1:n.512-151G=
XM_017014565.2:c.1205-151G= XP_016870054.1:n.1205-151G=
XM_017014566.1:c.512-151G= XP_016870055.1:n.512-151G=
XR_242581.2:n.1252-151G=
XR_242581.4:n.1250-151G=
XR_242582.2:n.1252-151G=
XR_242582.4:n.1250-151G=
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