Canonical Allele Identifier: CA2176326635

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242546_50242549delinsAAGG , CM000677.2:g.50242546_50242549delinsAAGG	GRCh38
NC_000015.9:g.50534743_50534746delinsAAGG , CM000677.1:g.50534743_50534746delinsAAGG	GRCh37
NC_000015.8:g.48322035_48322038delinsAAGG	NCBI36
NG_027487.1:g.28417_28420delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1700_1703delinsCCTT MANE Select	ENSP00000267845.3:p.Ser567=
ENST00000267845.7:c.1700_1703delinsCCTT	ENSP00000267845.3:p.Ser567=
ENST00000543581.5:c.1601_1604delinsCCTT	ENSP00000440252.1:p.Ser534=
ENST00000559816.1:n.1444_1447delinsCCTT
NM_001306146.1:c.1601_1604delinsCCTT	NP_001293075.1:p.Ser534=
NM_002112.3:c.1700_1703delinsCCTT	NP_002103.2:p.Ser567=
XM_011521479.1:c.1463_1466delinsCCTT	XP_011519781.1:p.Ser488=
XM_011521480.1:c.1268_1271delinsCCTT	XP_011519782.1:p.Ser423=
XM_017022094.1:c.1805_1808delinsCCTT	XP_016877583.1:p.Ser602=
XM_017022095.1:c.1706_1709delinsCCTT	XP_016877584.1:p.Ser569=
XM_017022096.1:c.1577_1580delinsCCTT	XP_016877585.1:p.Ser526=
XM_017022097.1:c.1568_1571delinsCCTT	XP_016877586.1:p.Ser523=
XM_017022098.1:c.1373_1376delinsCCTT	XP_016877587.1:p.Ser458=
NM_002112.4:c.1700_1703delinsCCTT MANE Select	NP_002103.2:p.Ser567=
NM_001306146.2:c.1601_1604delinsCCTT	NP_001293075.1:p.Ser534=