Canonical Allele Identifier: CA2521096924
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534397_154534398insGTCGGGACGCACGA , CM000685.2:g.154534397_154534398insGTCGGGACGCACGA GRCh38
NC_000023.10:g.153762612_153762613insGTCGGGACGCACGA , CM000685.1:g.153762612_153762613insGTCGGGACGCACGA GRCh37
NC_000023.9:g.153415806_153415807insGTCGGGACGCACGA NCBI36
NG_009015.2:g.18175_18176insTCGTGCGTCCCGAC

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.584_585insTCGTGCGTCCCGAC ENSP00000377194.2:p.Gln195HisfsTer25
ENST00000439227.6:c.587_588insTCGTGCGTCCCGAC ENSP00000395599.2:p.Gln196HisfsTer25
ENST00000696420.1:c.584_585insTCGTGCGTCCCGAC ENSP00000512615.1:p.Gln195HisfsTer25
ENST00000696421.1:c.584_585insTCGTGCGTCCCGAC ENSP00000512616.1:p.Gln195HisfsTer25
ENST00000696422.1:c.447_448insTCGTGCGTCCCGAC
ENST00000696423.1:c.450_451insTCGTGCGTCCCGAC
ENST00000696424.1:c.464_465insTCGTGCGTCCCGAC ENSP00000512619.1:p.Gln155HisfsTer25
ENST00000696425.1:c.584_585insTCGTGCGTCCCGAC ENSP00000512620.1:p.Gln195HisfsTer25
ENST00000696426.1:c.584_585insTCGTGCGTCCCGAC ENSP00000512621.1:p.Gln195HisfsTer25
ENST00000696427.1:c.584_585insTCGTGCGTCCCGAC ENSP00000512622.1:p.Gln195HisfsTer25
ENST00000696428.1:c.*426_*427insTCGTGCGTCCCGAC ENSP00000512623.1:n.*426_*427insTCGTGCGTC...
ENST00000696429.1:c.584_585insTCGTGCGTCCCGAC ENSP00000512624.1:p.Gln195HisfsTer25
ENST00000696430.1:c.584_585insTCGTGCGTCCCGAC ENSP00000512625.1:p.Gln195HisfsTer25
ENST00000393562.10:c.584_585insTCGTGCGTCCCGAC MANE Select ENSP00000377192.3:p.Gln195HisfsTer25
ENST00000369620.6:c.584_585insTCGTGCGTCCCGAC ENSP00000358633.2:p.Gln195HisfsTer25
ENST00000393562.6:c.674_675insTCGTGCGTCCCGAC ENSP00000377192.2:p.Gln225HisfsTer25
ENST00000393564.6:c.584_585insTCGTGCGTCCCGAC ENSP00000377194.2:p.Gln195HisfsTer25
ENST00000433845.1:c.584_585insTCGTGCGTCCCGAC ENSP00000394690.1:p.Gln195HisfsTer25
ENST00000439227.5:c.587_588insTCGTGCGTCCCGAC ENSP00000395599.1:p.Gln196HisfsTer25
ENST00000440967.5:c.587_588insTCGTGCGTCCCGAC ENSP00000400648.1:p.Gln196HisfsTer25
ENST00000621232.4:c.584_585insTCGTGCGTCCCGAC ENSP00000483686.1:p.Gln195HisfsTer25
NM_000402.4:c.674_675insTCGTGCGTCCCGAC NP_000393.4:p.Gln225HisfsTer25
NM_001042351.2:c.584_585insTCGTGCGTCCCGAC NP_001035810.1:p.Gln195HisfsTer25
XM_005274657.2:c.677_678insTCGTGCGTCCCGAC XP_005274714.1:p.Gln226HisfsTer25
XM_005274658.2:c.587_588insTCGTGCGTCCCGAC XP_005274715.1:p.Gln196HisfsTer25
XM_011531132.1:c.677_678insTCGTGCGTCCCGAC XP_011529434.1:p.Gln226HisfsTer25
NM_001360016.2:c.584_585insTCGTGCGTCCCGAC MANE Select NP_001346945.1:p.Gln195HisfsTer25
NM_001042351.3:c.584_585insTCGTGCGTCCCGAC NP_001035810.1:p.Gln195HisfsTer25