Canonical Allele Identifier: CA2522850875
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534399_154534400insTTATAG , CM000685.2:g.154534399_154534400insTTATAG GRCh38
NC_000023.10:g.153762614_153762615insTTATAG , CM000685.1:g.153762614_153762615insTTATAG GRCh37
NC_000023.9:g.153415808_153415809insTTATAG NCBI36
NG_009015.2:g.18174_18175insTATAAC

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.583_584insTATAAC ENSP00000377194.2:p.Gln195LeufsTer2
ENST00000439227.6:c.586_587insTATAAC ENSP00000395599.2:p.Gln196LeufsTer2
ENST00000696420.1:c.583_584insTATAAC ENSP00000512615.1:p.Gln195LeufsTer2
ENST00000696421.1:c.583_584insTATAAC ENSP00000512616.1:p.Gln195LeufsTer2
ENST00000696422.1:c.446_447insTATAAC
ENST00000696423.1:c.449_450insTATAAC
ENST00000696424.1:c.463_464insTATAAC ENSP00000512619.1:p.Gln155LeufsTer2
ENST00000696425.1:c.583_584insTATAAC ENSP00000512620.1:p.Gln195LeufsTer2
ENST00000696426.1:c.583_584insTATAAC ENSP00000512621.1:p.Gln195LeufsTer2
ENST00000696427.1:c.583_584insTATAAC ENSP00000512622.1:p.Gln195LeufsTer2
ENST00000696428.1:c.*425_*426insTATAAC ENSP00000512623.1:n.*425_*426insTATAAC
ENST00000696429.1:c.583_584insTATAAC ENSP00000512624.1:p.Gln195LeufsTer2
ENST00000696430.1:c.583_584insTATAAC ENSP00000512625.1:p.Gln195LeufsTer2
ENST00000393562.10:c.583_584insTATAAC MANE Select ENSP00000377192.3:p.Gln195LeufsTer2
ENST00000369620.6:c.583_584insTATAAC ENSP00000358633.2:p.Gln195LeufsTer2
ENST00000393562.6:c.673_674insTATAAC ENSP00000377192.2:p.Gln225LeufsTer2
ENST00000393564.6:c.583_584insTATAAC ENSP00000377194.2:p.Gln195LeufsTer2
ENST00000433845.1:c.583_584insTATAAC ENSP00000394690.1:p.Gln195LeufsTer2
ENST00000439227.5:c.586_587insTATAAC ENSP00000395599.1:p.Gln196LeufsTer2
ENST00000440967.5:c.586_587insTATAAC ENSP00000400648.1:p.Gln196LeufsTer2
ENST00000621232.4:c.583_584insTATAAC ENSP00000483686.1:p.Gln195LeufsTer2
NM_000402.4:c.673_674insTATAAC NP_000393.4:p.Gln225LeufsTer2
NM_001042351.2:c.583_584insTATAAC NP_001035810.1:p.Gln195LeufsTer2
XM_005274657.2:c.676_677insTATAAC XP_005274714.1:p.Gln226LeufsTer2
XM_005274658.2:c.586_587insTATAAC XP_005274715.1:p.Gln196LeufsTer2
XM_011531132.1:c.676_677insTATAAC XP_011529434.1:p.Gln226LeufsTer2
NM_001360016.2:c.583_584insTATAAC MANE Select NP_001346945.1:p.Gln195LeufsTer2
NM_001042351.3:c.583_584insTATAAC NP_001035810.1:p.Gln195LeufsTer2