Canonical Allele Identifier: CA916082443

Gene: GAA

Linked Data

• ClinVar Variation Id: 836467
• ClinVar RCV Id: RCV001037604 ; RCV001784574
• dbSNP Id: rs2039192386

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80109995dup , CM000679.2:g.80109995dup	GRCh38
NC_000017.10:g.78083794dup , CM000679.1:g.78083794dup	GRCh37
NC_000017.9:g.75698389dup	NCBI36
NG_009822.1:g.13440dup , LRG_673:g.13440dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1377dup	ENSP00000460543.2:p.Glu460ArgfsTer?
ENST00000572080.2:c.1377dup	ENSP00000459972.2:p.Glu460ArgfsTer?
ENST00000577106.6:c.1377dup	ENSP00000458306.2:p.Glu460ArgfsTer?
ENST00000302262.8:c.1377dup MANE Select	ENSP00000305692.3:p.Glu460ArgfsTer?
ENST00000302262.7:c.1377dup	ENSP00000305692.3:p.Glu460ArgfsTer?
ENST00000390015.7:c.1377dup	ENSP00000374665.3:p.Glu460ArgfsTer?
NM_000152.3:c.1377dup , LRG_673t1:c.1377dup	NP_000143.2:p.Glu460ArgfsTer?
NM_001079803.1:c.1377dup	NP_001073271.1:p.Glu460ArgfsTer?
NM_001079804.1:c.1377dup	NP_001073272.1:p.Glu460ArgfsTer?
XM_005257193.1:c.1377dup	XP_005257250.1:p.Glu460ArgfsTer?
XM_005257194.3:c.1377dup	XP_005257251.1:p.Glu460ArgfsTer?
NM_000152.4:c.1377dup	NP_000143.2:p.Glu460ArgfsTer?
NM_001079803.2:c.1377dup	NP_001073271.1:p.Glu460ArgfsTer?
NM_001079804.2:c.1377dup	NP_001073272.1:p.Glu460ArgfsTer?
XM_005257193.2:c.1377dup	XP_005257250.1:p.Glu460ArgfsTer?
XM_005257194.4:c.1377dup	XP_005257251.1:p.Glu460ArgfsTer?
NM_000152.5:c.1377dup MANE Select	NP_000143.2:p.Glu460ArgfsTer?
NM_001079803.3:c.1377dup	NP_001073271.1:p.Glu460ArgfsTer?
NM_001079804.3:c.1377dup	NP_001073272.1:p.Glu460ArgfsTer?