Canonical Allele Identifier: CA618010229

Gene: HDC

Linked Data

• dbSNP Id: rs1193379278
• gnomAD v2: 15-50534745-G-GGAGGACAGC
• gnomAD v3: 15-50242548-G-GGAGGACAGC
• gnomAD v4: 15-50242548-G-GGAGGACAGC
• MyVariant Identifiers: chr15:g.50534745_50534746insGAGGACAGC (hg19) ; chr15:g.50242548_50242549insGAGGACAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242549_50242557dup , CM000677.2:g.50242549_50242557dup	GRCh38
NC_000015.9:g.50534746_50534754dup , CM000677.1:g.50534746_50534754dup	GRCh37
NC_000015.8:g.48322038_48322046dup	NCBI36
NG_027487.1:g.28409_28417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1692_1700dup MANE Select	ENSP00000267845.3:p.Ser567_Phe568insLeuSerSer
ENST00000267845.7:c.1692_1700dup	ENSP00000267845.3:p.Ser567_Phe568insLeuSerSer
ENST00000543581.5:c.1593_1601dup	ENSP00000440252.1:p.Ser534_Phe535insLeuSerSer
ENST00000559816.1:n.1436_1444dup
NM_001306146.1:c.1593_1601dup	NP_001293075.1:p.Ser534_Phe535insLeuSerSer
NM_002112.3:c.1692_1700dup	NP_002103.2:p.Ser567_Phe568insLeuSerSer
XM_011521479.1:c.1455_1463dup	XP_011519781.1:p.Ser488_Phe489insLeuSerSer
XM_011521480.1:c.1260_1268dup	XP_011519782.1:p.Ser423_Phe424insLeuSerSer
XM_017022094.1:c.1797_1805dup	XP_016877583.1:p.Ser602_Phe603insLeuSerSer
XM_017022095.1:c.1698_1706dup	XP_016877584.1:p.Ser569_Phe570insLeuSerSer
XM_017022096.1:c.1569_1577dup	XP_016877585.1:p.Ser526_Phe527insLeuSerSer
XM_017022097.1:c.1560_1568dup	XP_016877586.1:p.Ser523_Phe524insLeuSerSer
XM_017022098.1:c.1365_1373dup	XP_016877587.1:p.Ser458_Phe459insLeuSerSer
NM_002112.4:c.1692_1700dup MANE Select	NP_002103.2:p.Ser567_Phe568insLeuSerSer
NM_001306146.2:c.1593_1601dup	NP_001293075.1:p.Ser534_Phe535insLeuSerSer