Canonical Allele Identifier: CA2565884403
Gene: G6PD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534425_154534426insC , CM000685.2:g.154534425_154534426insC GRCh38
NC_000023.10:g.153762640_153762641insC , CM000685.1:g.153762640_153762641insC GRCh37
NC_000023.9:g.153415834_153415835insC NCBI36
NG_009015.2:g.18147_18148insG

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.556_557insG ENSP00000377194.2:p.His186ArgfsTer8
ENST00000439227.6:c.559_560insG ENSP00000395599.2:p.His187ArgfsTer8
ENST00000696420.1:c.556_557insG ENSP00000512615.1:p.His186ArgfsTer8
ENST00000696421.1:c.556_557insG ENSP00000512616.1:p.His186ArgfsTer8
ENST00000696422.1:c.419_420insG
ENST00000696423.1:c.422_423insG
ENST00000696424.1:c.436_437insG ENSP00000512619.1:p.His146ArgfsTer8
ENST00000696425.1:c.556_557insG ENSP00000512620.1:p.His186ArgfsTer8
ENST00000696426.1:c.556_557insG ENSP00000512621.1:p.His186ArgfsTer8
ENST00000696427.1:c.556_557insG ENSP00000512622.1:p.His186ArgfsTer8
ENST00000696428.1:c.*398_*399insG ENSP00000512623.1:n.*398_*399insG
ENST00000696429.1:c.556_557insG ENSP00000512624.1:p.His186ArgfsTer8
ENST00000696430.1:c.556_557insG ENSP00000512625.1:p.His186ArgfsTer8
ENST00000393562.10:c.556_557insG MANE Select ENSP00000377192.3:p.His186ArgfsTer8
ENST00000369620.6:c.556_557insG ENSP00000358633.2:p.His186ArgfsTer8
ENST00000393562.6:c.646_647insG ENSP00000377192.2:p.His216ArgfsTer8
ENST00000393564.6:c.556_557insG ENSP00000377194.2:p.His186ArgfsTer8
ENST00000433845.1:c.556_557insG ENSP00000394690.1:p.His186ArgfsTer8
ENST00000439227.5:c.559_560insG ENSP00000395599.1:p.His187ArgfsTer8
ENST00000440967.5:c.559_560insG ENSP00000400648.1:p.His187ArgfsTer8
ENST00000621232.4:c.556_557insG ENSP00000483686.1:p.His186ArgfsTer8
NM_000402.4:c.646_647insG NP_000393.4:p.His216ArgfsTer8
NM_001042351.2:c.556_557insG NP_001035810.1:p.His186ArgfsTer8
XM_005274657.2:c.649_650insG XP_005274714.1:p.His217ArgfsTer8
XM_005274658.2:c.559_560insG XP_005274715.1:p.His187ArgfsTer8
XM_011531132.1:c.649_650insG XP_011529434.1:p.His217ArgfsTer8
NM_001360016.2:c.556_557insG MANE Select NP_001346945.1:p.His186ArgfsTer8
NM_001042351.3:c.556_557insG NP_001035810.1:p.His186ArgfsTer8