Canonical Allele Identifier: CA2573054608
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs2143919665
gnomAD v4: 17-80117058-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80117058_80117059insA , CM000679.2:g.80117058_80117059insA GRCh38
NC_000017.10:g.78090857_78090858insA , CM000679.1:g.78090857_78090858insA GRCh37
NC_000017.9:g.75705452_75705453insA NCBI36
NG_009822.1:g.20503_20504insA , LRG_673:g.20503_20504insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2280_2281insA ENSP00000460543.2:p.Ala761SerfsTer?
ENST00000572080.2:c.*418_*419insA ENSP00000459972.2:n.*418_*419insA
ENST00000577106.6:c.2280_2281insA ENSP00000458306.2:p.Ala761SerfsTer?
ENST00000302262.8:c.2280_2281insA MANE Select ENSP00000305692.3:p.Ala761SerfsTer?
ENST00000302262.7:c.2280_2281insA ENSP00000305692.3:p.Ala761SerfsTer?
ENST00000390015.7:c.2280_2281insA ENSP00000374665.3:p.Ala761SerfsTer?
ENST00000572080.1:c.699_700insA
ENST00000573556.1:n.233_234insA
NM_000152.3:c.2280_2281insA , LRG_673t1:c.2280_2281insA NP_000143.2:p.Ala761SerfsTer?
NM_001079803.1:c.2280_2281insA NP_001073271.1:p.Ala761SerfsTer?
NM_001079804.1:c.2280_2281insA NP_001073272.1:p.Ala761SerfsTer?
XM_005257193.1:c.2280_2281insA XP_005257250.1:p.Ala761SerfsTer?
XM_005257194.3:c.2280_2281insA XP_005257251.1:p.Ala761SerfsTer?
NM_000152.4:c.2280_2281insA NP_000143.2:p.Ala761SerfsTer?
NM_001079803.2:c.2280_2281insA NP_001073271.1:p.Ala761SerfsTer?
NM_001079804.2:c.2280_2281insA NP_001073272.1:p.Ala761SerfsTer?
XM_005257193.2:c.2280_2281insA XP_005257250.1:p.Ala761SerfsTer?
XM_005257194.4:c.2280_2281insA XP_005257251.1:p.Ala761SerfsTer?
NM_000152.5:c.2280_2281insA MANE Select NP_000143.2:p.Ala761SerfsTer?
NM_001079803.3:c.2280_2281insA NP_001073271.1:p.Ala761SerfsTer?
NM_001079804.3:c.2280_2281insA NP_001073272.1:p.Ala761SerfsTer?
Search 100 bp 5'
Search 100 bp 3'