Canonical Allele Identifier: CA2566756279

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534440_154534441del , CM000685.2:g.154534440_154534441del	GRCh38
NC_000023.10:g.153762655_153762656del , CM000685.1:g.153762655_153762656del	GRCh37
NC_000023.9:g.153415849_153415850del	NCBI36
NG_009015.2:g.18132_18133del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.541_542del	ENSP00000377194.2:p.Asp181ProfsTer12
ENST00000439227.6:c.544_545del	ENSP00000395599.2:p.Asp182ProfsTer12
ENST00000696420.1:c.541_542del	ENSP00000512615.1:p.Asp181ProfsTer12
ENST00000696421.1:c.541_542del	ENSP00000512616.1:p.Asp181ProfsTer12
ENST00000696422.1:c.404_405del
ENST00000696423.1:c.407_408del
ENST00000696424.1:c.421_422del	ENSP00000512619.1:p.Asp141ProfsTer12
ENST00000696425.1:c.541_542del	ENSP00000512620.1:p.Asp181ProfsTer12
ENST00000696426.1:c.541_542del	ENSP00000512621.1:p.Asp181ProfsTer12
ENST00000696427.1:c.541_542del	ENSP00000512622.1:p.Asp181ProfsTer12
ENST00000696428.1:c.*383_*384del	ENSP00000512623.1:n.*383_*384del
ENST00000696429.1:c.541_542del	ENSP00000512624.1:p.Asp181ProfsTer12
ENST00000696430.1:c.541_542del	ENSP00000512625.1:p.Asp181ProfsTer12
ENST00000393562.10:c.541_542del MANE Select	ENSP00000377192.3:p.Asp181ProfsTer12
ENST00000369620.6:c.541_542del	ENSP00000358633.2:p.Asp181ProfsTer12
ENST00000393562.6:c.631_632del	ENSP00000377192.2:p.Asp211ProfsTer12
ENST00000393564.6:c.541_542del	ENSP00000377194.2:p.Asp181ProfsTer12
ENST00000433845.1:c.541_542del	ENSP00000394690.1:p.Asp181ProfsTer12
ENST00000439227.5:c.544_545del	ENSP00000395599.1:p.Asp182ProfsTer12
ENST00000440967.5:c.544_545del	ENSP00000400648.1:p.Asp182ProfsTer12
ENST00000621232.4:c.541_542del	ENSP00000483686.1:p.Asp181ProfsTer12
NM_000402.4:c.631_632del	NP_000393.4:p.Asp211ProfsTer12
NM_001042351.2:c.541_542del	NP_001035810.1:p.Asp181ProfsTer12
XM_005274657.2:c.634_635del	XP_005274714.1:p.Asp212ProfsTer12
XM_005274658.2:c.544_545del	XP_005274715.1:p.Asp182ProfsTer12
XM_011531132.1:c.634_635del	XP_011529434.1:p.Asp212ProfsTer12
NM_001360016.2:c.541_542del MANE Select	NP_001346945.1:p.Asp181ProfsTer12
NM_001042351.3:c.541_542del	NP_001035810.1:p.Asp181ProfsTer12