Canonical Allele Identifier: CA2695144423

Gene: G6PD

Linked Data

• gnomAD v4: X-154533045-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533048dup , CM000685.2:g.154533048dup	GRCh38
NC_000023.10:g.153761263dup , CM000685.1:g.153761263dup	GRCh37
NC_000023.9:g.153414457dup	NCBI36
NG_009015.2:g.19527dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.947dup	ENSP00000377194.2:p.Glu317ArgfsTer?
ENST00000439227.6:c.950dup	ENSP00000395599.2:p.Glu318ArgfsTer?
ENST00000696420.1:c.947dup	ENSP00000512615.1:p.Glu317ArgfsTer?
ENST00000696421.1:c.947dup	ENSP00000512616.1:p.Glu317ArgfsTer?
ENST00000696422.1:c.810dup
ENST00000696423.1:c.813dup
ENST00000696424.1:c.799dup	ENSP00000512619.1:n.799dup
ENST00000696425.1:c.865-244dup	ENSP00000512620.1:n.865-244dup
ENST00000696426.1:c.*407dup	ENSP00000512621.1:n.*407dup
ENST00000696427.1:c.954dup	ENSP00000512622.1:p.Arg319AlafsTer?
ENST00000696428.1:c.*789dup	ENSP00000512623.1:n.*789dup
ENST00000696429.1:c.947dup	ENSP00000512624.1:p.Glu317ArgfsTer?
ENST00000696430.1:c.947dup	ENSP00000512625.1:p.Glu317ArgfsTer?
ENST00000393562.10:c.947dup MANE Select	ENSP00000377192.3:p.Glu317ArgfsTer?
ENST00000369620.6:c.1085dup	ENSP00000358633.2:p.Glu363ArgfsTer?
ENST00000393562.6:c.1037dup	ENSP00000377192.2:p.Glu347ArgfsTer?
ENST00000393564.6:c.947dup	ENSP00000377194.2:p.Glu317ArgfsTer?
ENST00000439227.5:c.950dup	ENSP00000395599.1:p.Glu318ArgfsTer?
ENST00000440967.5:c.950dup	ENSP00000400648.1:p.Glu318ArgfsTer?
ENST00000490651.1:n.29dup
ENST00000621232.4:c.947dup	ENSP00000483686.1:p.Glu317ArgfsTer?
NM_000402.4:c.1037dup	NP_000393.4:p.Glu347ArgfsTer?
NM_001042351.2:c.947dup	NP_001035810.1:p.Glu317ArgfsTer?
XM_005274657.2:c.1040dup	XP_005274714.1:p.Glu348ArgfsTer?
XM_005274658.2:c.950dup	XP_005274715.1:p.Glu318ArgfsTer?
XM_011531132.1:c.958-244dup	XP_011529434.1:n.958-244dup
NM_001360016.2:c.947dup MANE Select	NP_001346945.1:p.Glu317ArgfsTer?
NM_001042351.3:c.947dup	NP_001035810.1:p.Glu317ArgfsTer?