Canonical Allele Identifier: CA2176326621

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242507_50242510delinsGTCT , CM000677.2:g.50242507_50242510delinsGTCT	GRCh38
NC_000015.9:g.50534704_50534707delinsGTCT , CM000677.1:g.50534704_50534707delinsGTCT	GRCh37
NC_000015.8:g.48321996_48321999delinsGTCT	NCBI36
NG_027487.1:g.28456_28459delinsAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1739_1742delinsAGAC MANE Select	ENSP00000267845.3:p.Lys580=
ENST00000267845.7:c.1739_1742delinsAGAC	ENSP00000267845.3:p.Lys580=
ENST00000543581.5:c.1640_1643delinsAGAC	ENSP00000440252.1:p.Lys547=
ENST00000559816.1:n.1483_1486delinsAGAC
NM_001306146.1:c.1640_1643delinsAGAC	NP_001293075.1:p.Lys547=
NM_002112.3:c.1739_1742delinsAGAC	NP_002103.2:p.Lys580=
XM_011521479.1:c.1502_1505delinsAGAC	XP_011519781.1:p.Lys501=
XM_011521480.1:c.1307_1310delinsAGAC	XP_011519782.1:p.Lys436=
XM_017022094.1:c.1844_1847delinsAGAC	XP_016877583.1:p.Lys615=
XM_017022095.1:c.1745_1748delinsAGAC	XP_016877584.1:p.Lys582=
XM_017022096.1:c.1616_1619delinsAGAC	XP_016877585.1:p.Lys539=
XM_017022097.1:c.1607_1610delinsAGAC	XP_016877586.1:p.Lys536=
XM_017022098.1:c.1412_1415delinsAGAC	XP_016877587.1:p.Lys471=
NM_002112.4:c.1739_1742delinsAGAC MANE Select	NP_002103.2:p.Lys580=
NM_001306146.2:c.1640_1643delinsAGAC	NP_001293075.1:p.Lys547=