Canonical Allele Identifier: CA2532958184

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242360_50242361insCGATTGGTGGTGGCAT , CM000677.2:g.50242360_50242361insCGATTGGTGGTGGCAT	GRCh38
NC_000015.9:g.50534557_50534558insCGATTGGTGGTGGCAT , CM000677.1:g.50534557_50534558insCGATTGGTGGTGGCAT	GRCh37
NC_000015.8:g.48321849_48321850insCGATTGGTGGTGGCAT	NCBI36
NG_027487.1:g.28605_28606insATGCCACCACCAATCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1888_1889insATGCCACCACCAATCG MANE Select	ENSP00000267845.3:p.Phe630TyrfsTer20
ENST00000267845.7:c.1888_1889insATGCCACCACCAATCG	ENSP00000267845.3:p.Phe630TyrfsTer20
ENST00000543581.5:c.1789_1790insATGCCACCACCAATCG	ENSP00000440252.1:p.Phe597TyrfsTer20
ENST00000559816.1:n.1632_1633insATGCCACCACCAATCG
NM_001306146.1:c.1789_1790insATGCCACCACCAATCG	NP_001293075.1:p.Phe597TyrfsTer20
NM_002112.3:c.1888_1889insATGCCACCACCAATCG	NP_002103.2:p.Phe630TyrfsTer20
XM_011521479.1:c.1651_1652insATGCCACCACCAATCG	XP_011519781.1:p.Phe551TyrfsTer20
XM_011521480.1:c.1456_1457insATGCCACCACCAATCG	XP_011519782.1:p.Phe486TyrfsTer20
XM_017022094.1:c.1993_1994insATGCCACCACCAATCG	XP_016877583.1:p.Phe665TyrfsTer20
XM_017022095.1:c.1894_1895insATGCCACCACCAATCG	XP_016877584.1:p.Phe632TyrfsTer20
XM_017022096.1:c.1765_1766insATGCCACCACCAATCG	XP_016877585.1:p.Phe589TyrfsTer20
XM_017022097.1:c.1756_1757insATGCCACCACCAATCG	XP_016877586.1:p.Phe586TyrfsTer20
XM_017022098.1:c.1561_1562insATGCCACCACCAATCG	XP_016877587.1:p.Phe521TyrfsTer20
NM_002112.4:c.1888_1889insATGCCACCACCAATCG MANE Select	NP_002103.2:p.Phe630TyrfsTer20
NM_001306146.2:c.1789_1790insATGCCACCACCAATCG	NP_001293075.1:p.Phe597TyrfsTer20