Canonical Allele Identifier: CA2643115496

Gene: H6PD

Linked Data

• gnomAD v4: 1-9264045-GGCCGGTTGTTCTTTTCCCAGCAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264051_9264075del , CM000663.2:g.9264051_9264075del	GRCh38
NC_000001.10:g.9324110_9324134del , CM000663.1:g.9324110_9324134del	GRCh37
NC_000001.9:g.9246697_9246721del	NCBI36
NG_012218.1:g.34248_34272del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1558_1582del MANE Select	ENSP00000366620.2:p.Leu520SerfsTer?
ENST00000377403.6:c.1558_1582del	ENSP00000366620.1:p.Leu520SerfsTer?
ENST00000602477.1:c.1591_1615del	ENSP00000473348.1:p.Leu531SerfsTer?
NM_001282587.1:c.1591_1615del	NP_001269516.1:p.Leu531SerfsTer?
NM_004285.3:c.1558_1582del	NP_004276.2:p.Leu520SerfsTer?
XM_005263539.3:c.1591_1615del	XP_005263596.1:p.Leu531SerfsTer?
XM_005263540.3:c.1585_1609del	XP_005263597.1:p.Leu529SerfsTer?
XM_006711052.2:c.1558_1582del	XP_006711115.1:p.Leu520SerfsTer?
XM_011542446.1:c.1558_1582del	XP_011540748.1:p.Leu520SerfsTer?
XM_005263540.5:c.1585_1609del	XP_005263597.1:p.Leu529SerfsTer?
XM_006711052.4:c.1558_1582del	XP_006711115.1:p.Leu520SerfsTer?
XM_017002865.2:c.1558_1582del	XP_016858354.1:p.Leu520SerfsTer?
XM_017002866.2:c.490_514del	XP_016858355.1:p.Leu164SerfsTer?
NM_001282587.2:c.1591_1615del	NP_001269516.1:p.Leu531SerfsTer?
NM_004285.4:c.1558_1582del MANE Select	NP_004276.2:p.Leu520SerfsTer?