Canonical Allele Identifier: CA2499225013

Gene: GAA

Linked Data

• ClinVar Variation Id: 1068980
• ClinVar RCV Id: RCV001380685
• dbSNP Id: rs2143874124

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110946_80110950dup , CM000679.2:g.80110946_80110950dup	GRCh38
NC_000017.10:g.78084745_78084749dup , CM000679.1:g.78084745_78084749dup	GRCh37
NC_000017.9:g.75699340_75699344dup	NCBI36
NG_009822.1:g.14391_14395dup , LRG_673:g.14391_14395dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.1557_1561dup	ENSP00000460543.2:p.Glu521GlyfsTer?
ENST00000572080.2:c.1557_1561dup	ENSP00000459972.2:p.Glu521GlyfsTer?
ENST00000577106.6:c.1557_1561dup	ENSP00000458306.2:p.Glu521GlyfsTer?
ENST00000302262.8:c.1557_1561dup MANE Select	ENSP00000305692.3:p.Glu521GlyfsTer?
ENST00000302262.7:c.1557_1561dup	ENSP00000305692.3:p.Glu521GlyfsTer?
ENST00000390015.7:c.1557_1561dup	ENSP00000374665.3:p.Glu521GlyfsTer?
NM_000152.3:c.1557_1561dup , LRG_673t1:c.1557_1561dup	NP_000143.2:p.Glu521GlyfsTer?
NM_001079803.1:c.1557_1561dup	NP_001073271.1:p.Glu521GlyfsTer?
NM_001079804.1:c.1557_1561dup	NP_001073272.1:p.Glu521GlyfsTer?
XM_005257193.1:c.1557_1561dup	XP_005257250.1:p.Glu521GlyfsTer?
XM_005257194.3:c.1557_1561dup	XP_005257251.1:p.Glu521GlyfsTer?
NM_000152.4:c.1557_1561dup	NP_000143.2:p.Glu521GlyfsTer?
NM_001079803.2:c.1557_1561dup	NP_001073271.1:p.Glu521GlyfsTer?
NM_001079804.2:c.1557_1561dup	NP_001073272.1:p.Glu521GlyfsTer?
XM_005257193.2:c.1557_1561dup	XP_005257250.1:p.Glu521GlyfsTer?
XM_005257194.4:c.1557_1561dup	XP_005257251.1:p.Glu521GlyfsTer?
NM_000152.5:c.1557_1561dup MANE Select	NP_000143.2:p.Glu521GlyfsTer?
NM_001079803.3:c.1557_1561dup	NP_001073271.1:p.Glu521GlyfsTer?
NM_001079804.3:c.1557_1561dup	NP_001073272.1:p.Glu521GlyfsTer?