Canonical Allele Identifier: CA1152693541

Gene: H6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264053_9264056delinsGTTC , CM000663.2:g.9264053_9264056delinsGTTC	GRCh38
NC_000001.10:g.9324112_9324115delinsGTTC , CM000663.1:g.9324112_9324115delinsGTTC	GRCh37
NC_000001.9:g.9246699_9246702delinsGTTC	NCBI36
NG_012218.1:g.34250_34253delinsGTTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000377403.7:c.1560_1563delinsGTTC MANE Select	ENSP00000366620.2:p.Leu520=
ENST00000377403.6:c.1560_1563delinsGTTC	ENSP00000366620.1:p.Leu520=
ENST00000602477.1:c.1593_1596delinsGTTC	ENSP00000473348.1:p.Leu531=
NM_001282587.1:c.1593_1596delinsGTTC	NP_001269516.1:p.Leu531=
NM_004285.3:c.1560_1563delinsGTTC	NP_004276.2:p.Leu520=
XM_005263539.3:c.1593_1596delinsGTTC	XP_005263596.1:p.Leu531=
XM_005263540.3:c.1587_1590delinsGTTC	XP_005263597.1:p.Leu529=
XM_006711052.2:c.1560_1563delinsGTTC	XP_006711115.1:p.Leu520=
XM_011542446.1:c.1560_1563delinsGTTC	XP_011540748.1:p.Leu520=
XM_005263540.5:c.1587_1590delinsGTTC	XP_005263597.1:p.Leu529=
XM_006711052.4:c.1560_1563delinsGTTC	XP_006711115.1:p.Leu520=
XM_017002865.2:c.1560_1563delinsGTTC	XP_016858354.1:p.Leu520=
XM_017002866.2:c.492_495delinsGTTC	XP_016858355.1:p.Leu164=
NM_001282587.2:c.1593_1596delinsGTTC	NP_001269516.1:p.Leu531=
NM_004285.4:c.1560_1563delinsGTTC MANE Select	NP_004276.2:p.Leu520=