Canonical Allele Identifier: CA2550327947

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534430_154534432del , CM000685.2:g.154534430_154534432del	GRCh38
NC_000023.10:g.153762645_153762647del , CM000685.1:g.153762645_153762647del	GRCh37
NC_000023.9:g.153415839_153415841del	NCBI36
NG_009015.2:g.18141_18143del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.550_552del	ENSP00000377194.2:p.Ser184del
ENST00000439227.6:c.553_555del	ENSP00000395599.2:p.Ser185del
ENST00000696420.1:c.550_552del	ENSP00000512615.1:p.Ser184del
ENST00000696421.1:c.550_552del	ENSP00000512616.1:p.Ser184del
ENST00000696422.1:c.413_415del
ENST00000696423.1:c.416_418del
ENST00000696424.1:c.430_432del	ENSP00000512619.1:p.Ser144del
ENST00000696425.1:c.550_552del	ENSP00000512620.1:p.Ser184del
ENST00000696426.1:c.550_552del	ENSP00000512621.1:p.Ser184del
ENST00000696427.1:c.550_552del	ENSP00000512622.1:p.Ser184del
ENST00000696428.1:c.*392_*394del	ENSP00000512623.1:n.*392_*394del
ENST00000696429.1:c.550_552del	ENSP00000512624.1:p.Ser184del
ENST00000696430.1:c.550_552del	ENSP00000512625.1:p.Ser184del
ENST00000393562.10:c.550_552del MANE Select	ENSP00000377192.3:p.Ser184del
ENST00000369620.6:c.550_552del	ENSP00000358633.2:p.Ser184del
ENST00000393562.6:c.640_642del	ENSP00000377192.2:p.Ser214del
ENST00000393564.6:c.550_552del	ENSP00000377194.2:p.Ser184del
ENST00000433845.1:c.550_552del	ENSP00000394690.1:p.Ser184del
ENST00000439227.5:c.553_555del	ENSP00000395599.1:p.Ser185del
ENST00000440967.5:c.553_555del	ENSP00000400648.1:p.Ser185del
ENST00000621232.4:c.550_552del	ENSP00000483686.1:p.Ser184del
NM_000402.4:c.640_642del	NP_000393.4:p.Ser214del
NM_001042351.2:c.550_552del	NP_001035810.1:p.Ser184del
XM_005274657.2:c.643_645del	XP_005274714.1:p.Ser215del
XM_005274658.2:c.553_555del	XP_005274715.1:p.Ser185del
XM_011531132.1:c.643_645del	XP_011529434.1:p.Ser215del
NM_001360016.2:c.550_552del MANE Select	NP_001346945.1:p.Ser184del
NM_001042351.3:c.550_552del	NP_001035810.1:p.Ser184del