Canonical Allele Identifier: CA2176326622

Gene: HDC

Linked Data

• dbSNP Id: rs752343455
• gnomAD v4: 15-50242507-G-GTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242515_50242517dup , CM000677.2:g.50242515_50242517dup	GRCh38
NC_000015.9:g.50534712_50534714dup , CM000677.1:g.50534712_50534714dup	GRCh37
NC_000015.8:g.48322004_48322006dup	NCBI36
NG_027487.1:g.28456_28458dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1739_1741dup MANE Select	ENSP00000267845.3:p.Lys580_Thr581insLys
ENST00000267845.7:c.1739_1741dup	ENSP00000267845.3:p.Lys580_Thr581insLys
ENST00000543581.5:c.1640_1642dup	ENSP00000440252.1:p.Lys547_Thr548insLys
ENST00000559816.1:n.1483_1485dup
NM_001306146.1:c.1640_1642dup	NP_001293075.1:p.Lys547_Thr548insLys
NM_002112.3:c.1739_1741dup	NP_002103.2:p.Lys580_Thr581insLys
XM_011521479.1:c.1502_1504dup	XP_011519781.1:p.Lys501_Thr502insLys
XM_011521480.1:c.1307_1309dup	XP_011519782.1:p.Lys436_Thr437insLys
XM_017022094.1:c.1844_1846dup	XP_016877583.1:p.Lys615_Thr616insLys
XM_017022095.1:c.1745_1747dup	XP_016877584.1:p.Lys582_Thr583insLys
XM_017022096.1:c.1616_1618dup	XP_016877585.1:p.Lys539_Thr540insLys
XM_017022097.1:c.1607_1609dup	XP_016877586.1:p.Lys536_Thr537insLys
XM_017022098.1:c.1412_1414dup	XP_016877587.1:p.Lys471_Thr472insLys
NM_002112.4:c.1739_1741dup MANE Select	NP_002103.2:p.Lys580_Thr581insLys
NM_001306146.2:c.1640_1642dup	NP_001293075.1:p.Lys547_Thr548insLys