Canonical Allele Identifier: CA645617585

Gene: G6PD

Linked Data

• COSMIC: COSM2149644 ; COSM2149645

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532993del , CM000685.2:g.154532993del	GRCh38
NC_000023.10:g.153761208del , CM000685.1:g.153761208del	GRCh37
NC_000023.9:g.153414402del	NCBI36
NG_009015.2:g.19580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1000del	ENSP00000377194.2:p.Thr334ProfsTer29
ENST00000439227.6:c.1003del	ENSP00000395599.2:p.Thr335ProfsTer29
ENST00000696420.1:c.1000del	ENSP00000512615.1:p.Thr334ProfsTer29
ENST00000696421.1:c.1000del	ENSP00000512616.1:p.Thr334ProfsTer29
ENST00000696422.1:c.863del
ENST00000696423.1:c.866del
ENST00000696424.1:c.852del	ENSP00000512619.1:n.852del
ENST00000696425.1:c.865-191del	ENSP00000512620.1:n.865-191del
ENST00000696426.1:c.*460del	ENSP00000512621.1:n.*460del
ENST00000696427.1:c.1007del	ENSP00000512622.1:p.His336ProfsTer?
ENST00000696428.1:c.*842del	ENSP00000512623.1:n.*842del
ENST00000696429.1:c.1000del	ENSP00000512624.1:p.Thr334ProfsTer29
ENST00000696430.1:c.1000del	ENSP00000512625.1:p.Thr334ProfsTer29
ENST00000393562.10:c.1000del MANE Select	ENSP00000377192.3:p.Thr334ProfsTer29
ENST00000369620.6:c.1138del	ENSP00000358633.2:p.Thr380ProfsTer29
ENST00000393562.6:c.1090del	ENSP00000377192.2:p.Thr364ProfsTer29
ENST00000393564.6:c.1000del	ENSP00000377194.2:p.Thr334ProfsTer29
ENST00000439227.5:c.1003del	ENSP00000395599.1:p.Thr335ProfsTer?
ENST00000490651.1:n.82del
ENST00000621232.4:c.1000del	ENSP00000483686.1:p.Thr334ProfsTer29
NM_000402.4:c.1090del	NP_000393.4:p.Thr364ProfsTer29
NM_001042351.2:c.1000del	NP_001035810.1:p.Thr334ProfsTer29
XM_005274657.2:c.1093del	XP_005274714.1:p.Thr365ProfsTer29
XM_005274658.2:c.1003del	XP_005274715.1:p.Thr335ProfsTer29
XM_011531132.1:c.958-191del	XP_011529434.1:n.958-191del
NM_001360016.2:c.1000del MANE Select	NP_001346945.1:p.Thr334ProfsTer29
NM_001042351.3:c.1000del	NP_001035810.1:p.Thr334ProfsTer29