Canonical Allele Identifier: CA2514266239

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534435_154534439del , CM000685.2:g.154534435_154534439del	GRCh38
NC_000023.10:g.153762650_153762654del , CM000685.1:g.153762650_153762654del	GRCh37
NC_000023.9:g.153415844_153415848del	NCBI36
NG_009015.2:g.18134_18138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.543_547del	ENSP00000377194.2:p.Arg182ValfsTer10
ENST00000439227.6:c.546_550del	ENSP00000395599.2:p.Arg183ValfsTer10
ENST00000696420.1:c.543_547del	ENSP00000512615.1:p.Arg182ValfsTer10
ENST00000696421.1:c.543_547del	ENSP00000512616.1:p.Arg182ValfsTer10
ENST00000696422.1:c.406_410del
ENST00000696423.1:c.409_413del
ENST00000696424.1:c.423_427del	ENSP00000512619.1:p.Arg142ValfsTer10
ENST00000696425.1:c.543_547del	ENSP00000512620.1:p.Arg182ValfsTer10
ENST00000696426.1:c.543_547del	ENSP00000512621.1:p.Arg182ValfsTer10
ENST00000696427.1:c.543_547del	ENSP00000512622.1:p.Arg182ValfsTer10
ENST00000696428.1:c.*385_*389del	ENSP00000512623.1:n.*385_*389del
ENST00000696429.1:c.543_547del	ENSP00000512624.1:p.Arg182ValfsTer10
ENST00000696430.1:c.543_547del	ENSP00000512625.1:p.Arg182ValfsTer10
ENST00000393562.10:c.543_547del MANE Select	ENSP00000377192.3:p.Arg182ValfsTer10
ENST00000369620.6:c.543_547del	ENSP00000358633.2:p.Arg182ValfsTer10
ENST00000393562.6:c.633_637del	ENSP00000377192.2:p.Arg212ValfsTer10
ENST00000393564.6:c.543_547del	ENSP00000377194.2:p.Arg182ValfsTer10
ENST00000433845.1:c.543_547del	ENSP00000394690.1:p.Arg182ValfsTer10
ENST00000439227.5:c.546_550del	ENSP00000395599.1:p.Arg183ValfsTer10
ENST00000440967.5:c.546_550del	ENSP00000400648.1:p.Arg183ValfsTer10
ENST00000621232.4:c.543_547del	ENSP00000483686.1:p.Arg182ValfsTer10
NM_000402.4:c.633_637del	NP_000393.4:p.Arg212ValfsTer10
NM_001042351.2:c.543_547del	NP_001035810.1:p.Arg182ValfsTer10
XM_005274657.2:c.636_640del	XP_005274714.1:p.Arg213ValfsTer10
XM_005274658.2:c.546_550del	XP_005274715.1:p.Arg183ValfsTer10
XM_011531132.1:c.636_640del	XP_011529434.1:p.Arg213ValfsTer10
NM_001360016.2:c.543_547del MANE Select	NP_001346945.1:p.Arg182ValfsTer10
NM_001042351.3:c.543_547del	NP_001035810.1:p.Arg182ValfsTer10