Canonical Allele Identifier: CA2580101802
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 2441601
ClinVar RCV Id: RCV003143439

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533084_154533086del , CM000685.2:g.154533084_154533086del GRCh38
NC_000023.10:g.153761299_153761301del , CM000685.1:g.153761299_153761301del GRCh37
NC_000023.9:g.153414493_153414495del NCBI36
NG_009015.2:g.19489_19491del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.909_911del ENSP00000377194.2:p.Val304del
ENST00000439227.6:c.912_914del ENSP00000395599.2:p.Val305del
ENST00000696420.1:c.909_911del ENSP00000512615.1:p.Val304del
ENST00000696421.1:c.909_911del ENSP00000512616.1:p.Val304del
ENST00000696422.1:c.772_774del
ENST00000696423.1:c.775_777del
ENST00000696424.1:c.761_763del ENSP00000512619.1:n.761_763del
ENST00000696425.1:c.865-282_865-280del ENSP00000512620.1:n.865-282_865-280del
ENST00000696426.1:c.*369_*371del ENSP00000512621.1:n.*369_*371del
ENST00000696427.1:c.916_918del ENSP00000512622.1:p.Gly306del
ENST00000696428.1:c.*751_*753del ENSP00000512623.1:n.*751_*753del
ENST00000696429.1:c.909_911del ENSP00000512624.1:p.Val304del
ENST00000696430.1:c.909_911del ENSP00000512625.1:p.Val304del
ENST00000393562.10:c.909_911del MANE Select ENSP00000377192.3:p.Val304del
ENST00000369620.6:c.1047_1049del ENSP00000358633.2:p.Val350del
ENST00000393562.6:c.999_1001del ENSP00000377192.2:p.Val334del
ENST00000393564.6:c.909_911del ENSP00000377194.2:p.Val304del
ENST00000439227.5:c.912_914del ENSP00000395599.1:p.Val305del
ENST00000440967.5:c.912_914del ENSP00000400648.1:p.Val305del
ENST00000621232.4:c.909_911del ENSP00000483686.1:p.Val304del
NM_000402.4:c.999_1001del NP_000393.4:p.Val334del
NM_001042351.2:c.909_911del NP_001035810.1:p.Val304del
XM_005274657.2:c.1002_1004del XP_005274714.1:p.Val335del
XM_005274658.2:c.912_914del XP_005274715.1:p.Val305del
XM_011531132.1:c.958-282_958-280del XP_011529434.1:n.958-282_958-280del
NM_001360016.2:c.909_911del MANE Select NP_001346945.1:p.Val304del
NM_001042351.3:c.909_911del NP_001035810.1:p.Val304del