Canonical Allele Identifier: CA2824300343

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532617del , CM000685.2:g.154532617del	GRCh38
NC_000023.10:g.153760832del , CM000685.1:g.153760832del	GRCh37
NC_000023.9:g.153414026del	NCBI36
NG_009015.2:g.19957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1238del	ENSP00000377194.2:p.Phe413SerfsTer10
ENST00000439227.6:c.1241del	ENSP00000395599.2:p.Phe414SerfsTer10
ENST00000696420.1:c.1238del	ENSP00000512615.1:p.Phe413SerfsTer10
ENST00000696421.1:c.1238del	ENSP00000512616.1:p.Phe413SerfsTer10
ENST00000696422.1:c.1101del
ENST00000696423.1:c.1104del
ENST00000696424.1:c.1090del	ENSP00000512619.1:n.1090del
ENST00000696425.1:c.*151del	ENSP00000512620.1:n.*151del
ENST00000696426.1:c.*698del	ENSP00000512621.1:n.*698del
ENST00000696427.1:c.*198del	ENSP00000512622.1:n.*198del
ENST00000696428.1:c.*1080del	ENSP00000512623.1:n.*1080del
ENST00000696429.1:c.1238del	ENSP00000512624.1:p.Phe413SerfsTer10
ENST00000696430.1:c.1238del	ENSP00000512625.1:p.Phe413SerfsTer10
ENST00000393562.10:c.1238del MANE Select	ENSP00000377192.3:p.Phe413SerfsTer10
ENST00000369620.6:c.1376del	ENSP00000358633.2:p.Phe459SerfsTer10
ENST00000393562.6:c.1328del	ENSP00000377192.2:p.Phe443SerfsTer10
ENST00000393564.6:c.1238del	ENSP00000377194.2:p.Phe413SerfsTer10
ENST00000490651.1:n.459del
ENST00000621232.4:c.1238del	ENSP00000483686.1:p.Phe413SerfsTer10
NM_000402.4:c.1328del	NP_000393.4:p.Phe443SerfsTer10
NM_001042351.2:c.1238del	NP_001035810.1:p.Phe413SerfsTer10
XM_005274657.2:c.1331del	XP_005274714.1:p.Phe444SerfsTer10
XM_005274658.2:c.1241del	XP_005274715.1:p.Phe414SerfsTer10
XM_011531132.1:c.*151del	XP_011529434.1:n.*151del
NM_001360016.2:c.1238del MANE Select	NP_001346945.1:p.Phe413SerfsTer10
NM_001042351.3:c.1238del	NP_001035810.1:p.Phe413SerfsTer10