Canonical Allele Identifier: CA2574201607

Gene: H6PD

Linked Data

• gnomAD v4: 1-9263953-C-CCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9263955_9263958dup , CM000663.2:g.9263955_9263958dup	GRCh38
NC_000001.10:g.9324014_9324017dup , CM000663.1:g.9324014_9324017dup	GRCh37
NC_000001.9:g.9246601_9246604dup	NCBI36
NG_012218.1:g.34152_34155dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1462_1465dup MANE Select	ENSP00000366620.2:p.Leu489ProfsTer9
ENST00000377403.6:c.1462_1465dup	ENSP00000366620.1:p.Leu489ProfsTer9
ENST00000602477.1:c.1495_1498dup	ENSP00000473348.1:p.Leu500ProfsTer9
NM_001282587.1:c.1495_1498dup	NP_001269516.1:p.Leu500ProfsTer9
NM_004285.3:c.1462_1465dup	NP_004276.2:p.Leu489ProfsTer9
XM_005263539.3:c.1495_1498dup	XP_005263596.1:p.Leu500ProfsTer9
XM_005263540.3:c.1489_1492dup	XP_005263597.1:p.Leu498ProfsTer9
XM_006711052.2:c.1462_1465dup	XP_006711115.1:p.Leu489ProfsTer9
XM_011542446.1:c.1462_1465dup	XP_011540748.1:p.Leu489ProfsTer9
XM_005263540.5:c.1489_1492dup	XP_005263597.1:p.Leu498ProfsTer9
XM_006711052.4:c.1462_1465dup	XP_006711115.1:p.Leu489ProfsTer9
XM_017002865.2:c.1462_1465dup	XP_016858354.1:p.Leu489ProfsTer9
XM_017002866.2:c.394_397dup	XP_016858355.1:p.Leu133ProfsTer9
NM_001282587.2:c.1495_1498dup	NP_001269516.1:p.Leu500ProfsTer9
NM_004285.4:c.1462_1465dup MANE Select	NP_004276.2:p.Leu489ProfsTer9