Canonical Allele Identifier: CA2628396235

Gene: HDC

Linked Data

• gnomAD v4: 15-50242418-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242420del , CM000677.2:g.50242420del	GRCh38
NC_000015.9:g.50534617del , CM000677.1:g.50534617del	GRCh37
NC_000015.8:g.48321909del	NCBI36
NG_027487.1:g.28547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1830del MANE Select	ENSP00000267845.3:p.Arg611GlyfsTer12
ENST00000267845.7:c.1830del	ENSP00000267845.3:p.Arg611GlyfsTer12
ENST00000543581.5:c.1731del	ENSP00000440252.1:p.Arg578GlyfsTer12
ENST00000559816.1:n.1574del
NM_001306146.1:c.1731del	NP_001293075.1:p.Arg578GlyfsTer12
NM_002112.3:c.1830del	NP_002103.2:p.Arg611GlyfsTer12
XM_011521479.1:c.1593del	XP_011519781.1:p.Arg532GlyfsTer12
XM_011521480.1:c.1398del	XP_011519782.1:p.Arg467GlyfsTer12
XM_017022094.1:c.1935del	XP_016877583.1:p.Arg646GlyfsTer12
XM_017022095.1:c.1836del	XP_016877584.1:p.Arg613GlyfsTer12
XM_017022096.1:c.1707del	XP_016877585.1:p.Arg570GlyfsTer12
XM_017022097.1:c.1698del	XP_016877586.1:p.Arg567GlyfsTer12
XM_017022098.1:c.1503del	XP_016877587.1:p.Arg502GlyfsTer12
NM_002112.4:c.1830del MANE Select	NP_002103.2:p.Arg611GlyfsTer12
NM_001306146.2:c.1731del	NP_001293075.1:p.Arg578GlyfsTer12