Canonical Allele Identifier: CA2501123154

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532451del , CM000685.2:g.154532451del	GRCh38
NC_000023.10:g.153760666del , CM000685.1:g.153760666del	GRCh37
NC_000023.9:g.153413860del	NCBI36
NG_009015.2:g.20124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1301del	ENSP00000377194.2:p.Pro434LeufsTer?
ENST00000439227.6:c.1304del	ENSP00000395599.2:p.Pro435LeufsTer?
ENST00000696420.1:c.1301del	ENSP00000512615.1:p.Pro434LeufsTer?
ENST00000696421.1:c.1301del	ENSP00000512616.1:p.Pro434LeufsTer?
ENST00000696422.1:c.1164del
ENST00000696423.1:c.1167del
ENST00000696424.1:c.1153del	ENSP00000512619.1:n.1153del
ENST00000696425.1:c.*214del	ENSP00000512620.1:n.*214del
ENST00000696426.1:c.*761del	ENSP00000512621.1:n.*761del
ENST00000696427.1:c.*261del	ENSP00000512622.1:n.*261del
ENST00000696428.1:c.*1143del	ENSP00000512623.1:n.*1143del
ENST00000696429.1:c.1301del	ENSP00000512624.1:p.Pro434LeufsTer?
ENST00000696430.1:c.1301del	ENSP00000512625.1:p.Pro434LeufsTer?
ENST00000393562.10:c.1301del MANE Select	ENSP00000377192.3:p.Pro434LeufsTer?
ENST00000369620.6:c.1439del	ENSP00000358633.2:p.Pro480LeufsTer?
ENST00000393562.6:c.1391del	ENSP00000377192.2:p.Pro464LeufsTer?
ENST00000393564.6:c.1301del	ENSP00000377194.2:p.Pro434LeufsTer?
ENST00000490651.1:n.522del
ENST00000621232.4:c.1301del	ENSP00000483686.1:p.Pro434LeufsTer?
NM_000402.4:c.1391del	NP_000393.4:p.Pro464LeufsTer?
NM_001042351.2:c.1301del	NP_001035810.1:p.Pro434LeufsTer?
XM_005274657.2:c.1394del	XP_005274714.1:p.Pro465LeufsTer?
XM_005274658.2:c.1304del	XP_005274715.1:p.Pro435LeufsTer?
NM_001360016.2:c.1301del MANE Select	NP_001346945.1:p.Pro434LeufsTer?
NM_001042351.3:c.1301del	NP_001035810.1:p.Pro434LeufsTer?