Canonical Allele Identifier: CA2532101032

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534430_154534431insTGCCC , CM000685.2:g.154534430_154534431insTGCCC	GRCh38
NC_000023.10:g.153762645_153762646insTGCCC , CM000685.1:g.153762645_153762646insTGCCC	GRCh37
NC_000023.9:g.153415839_153415840insTGCCC	NCBI36
NG_009015.2:g.18142_18143insGGGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.551_552insGGGCA	ENSP00000377194.2:p.Asn185GlyfsTer?
ENST00000439227.6:c.554_555insGGGCA	ENSP00000395599.2:p.Asn186GlyfsTer?
ENST00000696420.1:c.551_552insGGGCA	ENSP00000512615.1:p.Asn185GlyfsTer?
ENST00000696421.1:c.551_552insGGGCA	ENSP00000512616.1:p.Asn185GlyfsTer?
ENST00000696422.1:c.414_415insGGGCA
ENST00000696423.1:c.417_418insGGGCA
ENST00000696424.1:c.431_432insGGGCA	ENSP00000512619.1:p.Asn145GlyfsTer?
ENST00000696425.1:c.551_552insGGGCA	ENSP00000512620.1:p.Asn185GlyfsTer?
ENST00000696426.1:c.551_552insGGGCA	ENSP00000512621.1:p.Asn185GlyfsTer?
ENST00000696427.1:c.551_552insGGGCA	ENSP00000512622.1:p.Asn185GlyfsTer?
ENST00000696428.1:c.*393_*394insGGGCA	ENSP00000512623.1:n.*393_*394insGGGCA
ENST00000696429.1:c.551_552insGGGCA	ENSP00000512624.1:p.Asn185GlyfsTer?
ENST00000696430.1:c.551_552insGGGCA	ENSP00000512625.1:p.Asn185GlyfsTer?
ENST00000393562.10:c.551_552insGGGCA MANE Select	ENSP00000377192.3:p.Asn185GlyfsTer?
ENST00000369620.6:c.551_552insGGGCA	ENSP00000358633.2:p.Asn185GlyfsTer?
ENST00000393562.6:c.641_642insGGGCA	ENSP00000377192.2:p.Asn215GlyfsTer?
ENST00000393564.6:c.551_552insGGGCA	ENSP00000377194.2:p.Asn185GlyfsTer?
ENST00000433845.1:c.551_552insGGGCA	ENSP00000394690.1:p.Asn185GlyfsTer?
ENST00000439227.5:c.554_555insGGGCA	ENSP00000395599.1:p.Asn186GlyfsTer?
ENST00000440967.5:c.554_555insGGGCA	ENSP00000400648.1:p.Asn186GlyfsTer?
ENST00000621232.4:c.551_552insGGGCA	ENSP00000483686.1:p.Asn185GlyfsTer?
NM_000402.4:c.641_642insGGGCA	NP_000393.4:p.Asn215GlyfsTer?
NM_001042351.2:c.551_552insGGGCA	NP_001035810.1:p.Asn185GlyfsTer?
XM_005274657.2:c.644_645insGGGCA	XP_005274714.1:p.Asn216GlyfsTer?
XM_005274658.2:c.554_555insGGGCA	XP_005274715.1:p.Asn186GlyfsTer?
XM_011531132.1:c.644_645insGGGCA	XP_011529434.1:p.Asn216GlyfsTer?
NM_001360016.2:c.551_552insGGGCA MANE Select	NP_001346945.1:p.Asn185GlyfsTer?
NM_001042351.3:c.551_552insGGGCA	NP_001035810.1:p.Asn185GlyfsTer?