Canonical Allele Identifier: CA1152693623

Gene: H6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264066_9264075delinsCAGCAGCCGG , CM000663.2:g.9264066_9264075delinsCAGCAGCCGG	GRCh38
NC_000001.10:g.9324125_9324134delinsCAGCAGCCGG , CM000663.1:g.9324125_9324134delinsCAGCAGCCGG	GRCh37
NC_000001.9:g.9246712_9246721delinsCAGCAGCCGG	NCBI36
NG_012218.1:g.34263_34272delinsCAGCAGCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1573_1582delinsCAGCAGCCGG MANE Select	ENSP00000366620.2:p.Gln525=
ENST00000377403.6:c.1573_1582delinsCAGCAGCCGG	ENSP00000366620.1:p.Gln525=
ENST00000602477.1:c.1606_1615delinsCAGCAGCCGG	ENSP00000473348.1:p.Gln536=
NM_001282587.1:c.1606_1615delinsCAGCAGCCGG	NP_001269516.1:p.Gln536=
NM_004285.3:c.1573_1582delinsCAGCAGCCGG	NP_004276.2:p.Gln525=
XM_005263539.3:c.1606_1615delinsCAGCAGCCGG	XP_005263596.1:p.Gln536=
XM_005263540.3:c.1600_1609delinsCAGCAGCCGG	XP_005263597.1:p.Gln534=
XM_006711052.2:c.1573_1582delinsCAGCAGCCGG	XP_006711115.1:p.Gln525=
XM_011542446.1:c.1573_1582delinsCAGCAGCCGG	XP_011540748.1:p.Gln525=
XM_005263540.5:c.1600_1609delinsCAGCAGCCGG	XP_005263597.1:p.Gln534=
XM_006711052.4:c.1573_1582delinsCAGCAGCCGG	XP_006711115.1:p.Gln525=
XM_017002865.2:c.1573_1582delinsCAGCAGCCGG	XP_016858354.1:p.Gln525=
XM_017002866.2:c.505_514delinsCAGCAGCCGG	XP_016858355.1:p.Gln169=
NM_001282587.2:c.1606_1615delinsCAGCAGCCGG	NP_001269516.1:p.Gln536=
NM_004285.4:c.1573_1582delinsCAGCAGCCGG MANE Select	NP_004276.2:p.Gln525=