Canonical Allele Identifier: CA575347

Gene: H6PD

Linked Data

• dbSNP Id: rs763819020
• ExAC: 1:9324125 CAGCAGCCGG / C
• gnomAD v2: 1-9324125-CAGCAGCCGG-C
• gnomAD v3: 1-9264066-CAGCAGCCGG-C
• gnomAD v4: 1-9264066-CAGCAGCCGG-C
• MyVariant Identifiers: chr1:g.9324126_9324134del (hg19) ; chr1:g.9264067_9264075del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264073_9264081del , CM000663.2:g.9264073_9264081del	GRCh38
NC_000001.10:g.9324132_9324140del , CM000663.1:g.9324132_9324140del	GRCh37
NC_000001.9:g.9246719_9246727del	NCBI36
NG_012218.1:g.34270_34278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1580_1588del MANE Select	ENSP00000366620.2:p.Pro527_Gln529del
ENST00000377403.6:c.1580_1588del	ENSP00000366620.1:p.Pro527_Gln529del
ENST00000602477.1:c.1613_1621del	ENSP00000473348.1:p.Pro538_Gln540del
NM_001282587.1:c.1613_1621del	NP_001269516.1:p.Pro538_Gln540del
NM_004285.3:c.1580_1588del	NP_004276.2:p.Pro527_Gln529del
XM_005263539.3:c.1613_1621del	XP_005263596.1:p.Pro538_Gln540del
XM_005263540.3:c.1607_1615del	XP_005263597.1:p.Pro536_Gln538del
XM_006711052.2:c.1580_1588del	XP_006711115.1:p.Pro527_Gln529del
XM_011542446.1:c.1580_1588del	XP_011540748.1:p.Pro527_Gln529del
XM_005263540.5:c.1607_1615del	XP_005263597.1:p.Pro536_Gln538del
XM_006711052.4:c.1580_1588del	XP_006711115.1:p.Pro527_Gln529del
XM_017002865.2:c.1580_1588del	XP_016858354.1:p.Pro527_Gln529del
XM_017002866.2:c.512_520del	XP_016858355.1:p.Pro171_Gln173del
NM_001282587.2:c.1613_1621del	NP_001269516.1:p.Pro538_Gln540del
NM_004285.4:c.1580_1588del MANE Select	NP_004276.2:p.Pro527_Gln529del