Canonical Allele Identifier: CA2535591227

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534395_154534396insCGTCG , CM000685.2:g.154534395_154534396insCGTCG	GRCh38
NC_000023.10:g.153762610_153762611insCGTCG , CM000685.1:g.153762610_153762611insCGTCG	GRCh37
NC_000023.9:g.153415804_153415805insCGTCG	NCBI36
NG_009015.2:g.18177_18178insCGACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.586_587insCGACG	ENSP00000377194.2:p.Ile196ThrfsTer21
ENST00000439227.6:c.589_590insCGACG	ENSP00000395599.2:p.Ile197ThrfsTer21
ENST00000696420.1:c.586_587insCGACG	ENSP00000512615.1:p.Ile196ThrfsTer21
ENST00000696421.1:c.586_587insCGACG	ENSP00000512616.1:p.Ile196ThrfsTer21
ENST00000696422.1:c.449_450insCGACG
ENST00000696423.1:c.452_453insCGACG
ENST00000696424.1:c.466_467insCGACG	ENSP00000512619.1:p.Ile156ThrfsTer21
ENST00000696425.1:c.586_587insCGACG	ENSP00000512620.1:p.Ile196ThrfsTer21
ENST00000696426.1:c.586_587insCGACG	ENSP00000512621.1:p.Ile196ThrfsTer21
ENST00000696427.1:c.586_587insCGACG	ENSP00000512622.1:p.Ile196ThrfsTer21
ENST00000696428.1:c.*428_*429insCGACG	ENSP00000512623.1:n.*428_*429insCGACG
ENST00000696429.1:c.586_587insCGACG	ENSP00000512624.1:p.Ile196ThrfsTer21
ENST00000696430.1:c.586_587insCGACG	ENSP00000512625.1:p.Ile196ThrfsTer21
ENST00000393562.10:c.586_587insCGACG MANE Select	ENSP00000377192.3:p.Ile196ThrfsTer21
ENST00000369620.6:c.586_587insCGACG	ENSP00000358633.2:p.Ile196ThrfsTer21
ENST00000393562.6:c.676_677insCGACG	ENSP00000377192.2:p.Ile226ThrfsTer21
ENST00000393564.6:c.586_587insCGACG	ENSP00000377194.2:p.Ile196ThrfsTer21
ENST00000433845.1:c.586_587insCGACG	ENSP00000394690.1:p.Ile196ThrfsTer21
ENST00000439227.5:c.589_590insCGACG	ENSP00000395599.1:p.Ile197ThrfsTer21
ENST00000440967.5:c.589_590insCGACG	ENSP00000400648.1:p.Ile197ThrfsTer21
ENST00000621232.4:c.586_587insCGACG	ENSP00000483686.1:p.Ile196ThrfsTer21
NM_000402.4:c.676_677insCGACG	NP_000393.4:p.Ile226ThrfsTer21
NM_001042351.2:c.586_587insCGACG	NP_001035810.1:p.Ile196ThrfsTer21
XM_005274657.2:c.679_680insCGACG	XP_005274714.1:p.Ile227ThrfsTer21
XM_005274658.2:c.589_590insCGACG	XP_005274715.1:p.Ile197ThrfsTer21
XM_011531132.1:c.679_680insCGACG	XP_011529434.1:p.Ile227ThrfsTer21
NM_001360016.2:c.586_587insCGACG MANE Select	NP_001346945.1:p.Ile196ThrfsTer21
NM_001042351.3:c.586_587insCGACG	NP_001035810.1:p.Ile196ThrfsTer21