Canonical Allele Identifier: CA916082438

Gene: GAA

Linked Data

• ClinVar Variation Id: 837937
• ClinVar RCV Id: RCV001039379 ; RCV001784579
• dbSNP Id: rs2039117815
• gnomAD v4: 17-80107620-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107623del , CM000679.2:g.80107623del	GRCh38
NC_000017.10:g.78081422del , CM000679.1:g.78081422del	GRCh37
NC_000017.9:g.75696017del	NCBI36
NG_009822.1:g.11068del , LRG_673:g.11068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.759del	ENSP00000460543.2:p.Ser254ArgfsTer14
ENST00000572080.2:c.759del	ENSP00000459972.2:p.Ser254ArgfsTer14
ENST00000577106.6:c.759del	ENSP00000458306.2:p.Ser254ArgfsTer14
ENST00000302262.8:c.759del MANE Select	ENSP00000305692.3:p.Ser254ArgfsTer14
ENST00000302262.7:c.759del	ENSP00000305692.3:p.Ser254ArgfsTer14
ENST00000390015.7:c.759del	ENSP00000374665.3:p.Ser254ArgfsTer14
ENST00000570803.5:c.759del	ENSP00000460543.1:p.Ser254ArgfsTer14
NM_000152.3:c.759del , LRG_673t1:c.759del	NP_000143.2:p.Ser254ArgfsTer14
NM_001079803.1:c.759del	NP_001073271.1:p.Ser254ArgfsTer14
NM_001079804.1:c.759del	NP_001073272.1:p.Ser254ArgfsTer14
XM_005257193.1:c.759del	XP_005257250.1:p.Ser254ArgfsTer14
XM_005257194.3:c.759del	XP_005257251.1:p.Ser254ArgfsTer14
NM_000152.4:c.759del	NP_000143.2:p.Ser254ArgfsTer14
NM_001079803.2:c.759del	NP_001073271.1:p.Ser254ArgfsTer14
NM_001079804.2:c.759del	NP_001073272.1:p.Ser254ArgfsTer14
XM_005257193.2:c.759del	XP_005257250.1:p.Ser254ArgfsTer14
XM_005257194.4:c.759del	XP_005257251.1:p.Ser254ArgfsTer14
NM_000152.5:c.759del MANE Select	NP_000143.2:p.Ser254ArgfsTer14
NM_001079803.3:c.759del	NP_001073271.1:p.Ser254ArgfsTer14
NM_001079804.3:c.759del	NP_001073272.1:p.Ser254ArgfsTer14