Canonical Allele Identifier: CA891862613

Gene: GAA

Linked Data

• ClinVar Variation Id: 965021
• ClinVar RCV Id: RCV001239370 ; RCV001785798
• dbSNP Id: rs2039120342

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107663_80107667delinsA , CM000679.2:g.80107663_80107667delinsA	GRCh38
NC_000017.10:g.78081462_78081466delinsA , CM000679.1:g.78081462_78081466delinsA	GRCh37
NC_000017.9:g.75696057_75696061delinsA	NCBI36
NG_009822.1:g.11108_11112delinsA , LRG_673:g.11108_11112delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.799_803delinsA	ENSP00000460543.2:p.Leu267SerfsTer?
ENST00000572080.2:c.799_803delinsA	ENSP00000459972.2:p.Leu267SerfsTer?
ENST00000577106.6:c.799_803delinsA	ENSP00000458306.2:p.Leu267SerfsTer?
ENST00000302262.8:c.799_803delinsA MANE Select	ENSP00000305692.3:p.Leu267SerfsTer?
ENST00000302262.7:c.799_803delinsA	ENSP00000305692.3:p.Leu267SerfsTer?
ENST00000390015.7:c.799_803delinsA	ENSP00000374665.3:p.Leu267SerfsTer?
ENST00000570803.5:c.799_803delinsA	ENSP00000460543.1:p.Leu267SerfsTer?
NM_000152.3:c.799_803delinsA , LRG_673t1:c.799_803delinsA	NP_000143.2:p.Leu267SerfsTer?
NM_001079803.1:c.799_803delinsA	NP_001073271.1:p.Leu267SerfsTer?
NM_001079804.1:c.799_803delinsA	NP_001073272.1:p.Leu267SerfsTer?
XM_005257193.1:c.799_803delinsA	XP_005257250.1:p.Leu267SerfsTer?
XM_005257194.3:c.799_803delinsA	XP_005257251.1:p.Leu267SerfsTer?
NM_000152.4:c.799_803delinsA	NP_000143.2:p.Leu267SerfsTer?
NM_001079803.2:c.799_803delinsA	NP_001073271.1:p.Leu267SerfsTer?
NM_001079804.2:c.799_803delinsA	NP_001073272.1:p.Leu267SerfsTer?
XM_005257193.2:c.799_803delinsA	XP_005257250.1:p.Leu267SerfsTer?
XM_005257194.4:c.799_803delinsA	XP_005257251.1:p.Leu267SerfsTer?
NM_000152.5:c.799_803delinsA MANE Select	NP_000143.2:p.Leu267SerfsTer?
NM_001079803.3:c.799_803delinsA	NP_001073271.1:p.Leu267SerfsTer?
NM_001079804.3:c.799_803delinsA	NP_001073272.1:p.Leu267SerfsTer?