Canonical Allele Identifier: CA2628396369

Gene: HDC

Linked Data

• gnomAD v4: 15-50242509-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242511del , CM000677.2:g.50242511del	GRCh38
NC_000015.9:g.50534708del , CM000677.1:g.50534708del	GRCh37
NC_000015.8:g.48322000del	NCBI36
NG_027487.1:g.28456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1739del MANE Select	ENSP00000267845.3:p.Lys580ArgfsTer13
ENST00000267845.7:c.1739del	ENSP00000267845.3:p.Lys580ArgfsTer13
ENST00000543581.5:c.1640del	ENSP00000440252.1:p.Lys547ArgfsTer13
ENST00000559816.1:n.1483del
NM_001306146.1:c.1640del	NP_001293075.1:p.Lys547ArgfsTer13
NM_002112.3:c.1739del	NP_002103.2:p.Lys580ArgfsTer13
XM_011521479.1:c.1502del	XP_011519781.1:p.Lys501ArgfsTer13
XM_011521480.1:c.1307del	XP_011519782.1:p.Lys436ArgfsTer13
XM_017022094.1:c.1844del	XP_016877583.1:p.Lys615ArgfsTer13
XM_017022095.1:c.1745del	XP_016877584.1:p.Lys582ArgfsTer13
XM_017022096.1:c.1616del	XP_016877585.1:p.Lys539ArgfsTer13
XM_017022097.1:c.1607del	XP_016877586.1:p.Lys536ArgfsTer13
XM_017022098.1:c.1412del	XP_016877587.1:p.Lys471ArgfsTer13
NM_002112.4:c.1739del MANE Select	NP_002103.2:p.Lys580ArgfsTer13
NM_001306146.2:c.1640del	NP_001293075.1:p.Lys547ArgfsTer13