Canonical Allele Identifier: CA2568373636

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534442_154534444del , CM000685.2:g.154534442_154534444del	GRCh38
NC_000023.10:g.153762657_153762659del , CM000685.1:g.153762657_153762659del	GRCh37
NC_000023.9:g.153415851_153415853del	NCBI36
NG_009015.2:g.18129_18131del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.538_540del	ENSP00000377194.2:p.Ser180del
ENST00000439227.6:c.541_543del	ENSP00000395599.2:p.Ser181del
ENST00000696420.1:c.538_540del	ENSP00000512615.1:p.Ser180del
ENST00000696421.1:c.538_540del	ENSP00000512616.1:p.Ser180del
ENST00000696422.1:c.401_403del
ENST00000696423.1:c.404_406del
ENST00000696424.1:c.418_420del	ENSP00000512619.1:p.Ser140del
ENST00000696425.1:c.538_540del	ENSP00000512620.1:p.Ser180del
ENST00000696426.1:c.538_540del	ENSP00000512621.1:p.Ser180del
ENST00000696427.1:c.538_540del	ENSP00000512622.1:p.Ser180del
ENST00000696428.1:c.*380_*382del	ENSP00000512623.1:n.*380_*382del
ENST00000696429.1:c.538_540del	ENSP00000512624.1:p.Ser180del
ENST00000696430.1:c.538_540del	ENSP00000512625.1:p.Ser180del
ENST00000393562.10:c.538_540del MANE Select	ENSP00000377192.3:p.Ser180del
ENST00000369620.6:c.538_540del	ENSP00000358633.2:p.Ser180del
ENST00000393562.6:c.628_630del	ENSP00000377192.2:p.Ser210del
ENST00000393564.6:c.538_540del	ENSP00000377194.2:p.Ser180del
ENST00000433845.1:c.538_540del	ENSP00000394690.1:p.Ser180del
ENST00000439227.5:c.541_543del	ENSP00000395599.1:p.Ser181del
ENST00000440967.5:c.541_543del	ENSP00000400648.1:p.Ser181del
ENST00000621232.4:c.538_540del	ENSP00000483686.1:p.Ser180del
NM_000402.4:c.628_630del	NP_000393.4:p.Ser210del
NM_001042351.2:c.538_540del	NP_001035810.1:p.Ser180del
XM_005274657.2:c.631_633del	XP_005274714.1:p.Ser211del
XM_005274658.2:c.541_543del	XP_005274715.1:p.Ser181del
XM_011531132.1:c.631_633del	XP_011529434.1:p.Ser211del
NM_001360016.2:c.538_540del MANE Select	NP_001346945.1:p.Ser180del
NM_001042351.3:c.538_540del	NP_001035810.1:p.Ser180del