Canonical Allele Identifier: CA519305724

Gene: G6PD

Linked Data

• gnomAD v3: X-154534397-CTG-C
• gnomAD v4: X-154534397-CTG-C
• MyVariant Identifiers: chrX:g.153762613_153762614del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534398_154534399del , CM000685.2:g.154534398_154534399del	GRCh38
NC_000023.10:g.153762613_153762614del , CM000685.1:g.153762613_153762614del	GRCh37
NC_000023.9:g.153415807_153415808del	NCBI36
NG_009015.2:g.18174_18175del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.583_584del	ENSP00000377194.2:p.Gln195AspfsTer?
ENST00000439227.6:c.586_587del	ENSP00000395599.2:p.Gln196AspfsTer?
ENST00000696420.1:c.583_584del	ENSP00000512615.1:p.Gln195AspfsTer?
ENST00000696421.1:c.583_584del	ENSP00000512616.1:p.Gln195AspfsTer?
ENST00000696422.1:c.446_447del
ENST00000696423.1:c.449_450del
ENST00000696424.1:c.463_464del	ENSP00000512619.1:p.Gln155AspfsTer?
ENST00000696425.1:c.583_584del	ENSP00000512620.1:p.Gln195AspfsTer?
ENST00000696426.1:c.583_584del	ENSP00000512621.1:p.Gln195AspfsTer?
ENST00000696427.1:c.583_584del	ENSP00000512622.1:p.Gln195AspfsTer?
ENST00000696428.1:c.*425_*426del	ENSP00000512623.1:n.*425_*426del
ENST00000696429.1:c.583_584del	ENSP00000512624.1:p.Gln195AspfsTer?
ENST00000696430.1:c.583_584del	ENSP00000512625.1:p.Gln195AspfsTer?
ENST00000393562.10:c.583_584del MANE Select	ENSP00000377192.3:p.Gln195AspfsTer?
ENST00000369620.6:c.583_584del	ENSP00000358633.2:p.Gln195AspfsTer?
ENST00000393562.6:c.673_674del	ENSP00000377192.2:p.Gln225AspfsTer?
ENST00000393564.6:c.583_584del	ENSP00000377194.2:p.Gln195AspfsTer?
ENST00000433845.1:c.583_584del	ENSP00000394690.1:p.Gln195AspfsTer?
ENST00000439227.5:c.586_587del	ENSP00000395599.1:p.Gln196AspfsTer?
ENST00000440967.5:c.586_587del	ENSP00000400648.1:p.Gln196AspfsTer?
ENST00000621232.4:c.583_584del	ENSP00000483686.1:p.Gln195AspfsTer?
NM_000402.4:c.673_674del	NP_000393.4:p.Gln225AspfsTer?
NM_001042351.2:c.583_584del	NP_001035810.1:p.Gln195AspfsTer?
XM_005274657.2:c.676_677del	XP_005274714.1:p.Gln226AspfsTer?
XM_005274658.2:c.586_587del	XP_005274715.1:p.Gln196AspfsTer?
XM_011531132.1:c.676_677del	XP_011529434.1:p.Gln226AspfsTer?
NM_001360016.2:c.583_584del MANE Select	NP_001346945.1:p.Gln195AspfsTer?
NM_001042351.3:c.583_584del	NP_001035810.1:p.Gln195AspfsTer?