Canonical Allele Identifier: CA2695227077
Gene: GAA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108540_80108543del , CM000679.2:g.80108540_80108543del GRCh38
NC_000017.10:g.78082339_78082342del , CM000679.1:g.78082339_78082342del GRCh37
NC_000017.9:g.75696934_75696937del NCBI36
NG_009822.1:g.11985_11988del , LRG_673:g.11985_11988del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1127_1130del ENSP00000460543.2:p.Trp376SerfsTer15
ENST00000572080.2:c.1127_1130del ENSP00000459972.2:p.Trp376SerfsTer15
ENST00000577106.6:c.1127_1130del ENSP00000458306.2:p.Trp376SerfsTer15
ENST00000302262.8:c.1127_1130del MANE Select ENSP00000305692.3:p.Trp376SerfsTer15
ENST00000302262.7:c.1127_1130del ENSP00000305692.3:p.Trp376SerfsTer15
ENST00000390015.7:c.1127_1130del ENSP00000374665.3:p.Trp376SerfsTer15
NM_000152.3:c.1127_1130del , LRG_673t1:c.1127_1130del NP_000143.2:p.Trp376SerfsTer15
NM_001079803.1:c.1127_1130del NP_001073271.1:p.Trp376SerfsTer15
NM_001079804.1:c.1127_1130del NP_001073272.1:p.Trp376SerfsTer15
XM_005257193.1:c.1127_1130del XP_005257250.1:p.Trp376SerfsTer15
XM_005257194.3:c.1127_1130del XP_005257251.1:p.Trp376SerfsTer15
NM_000152.4:c.1127_1130del NP_000143.2:p.Trp376SerfsTer15
NM_001079803.2:c.1127_1130del NP_001073271.1:p.Trp376SerfsTer15
NM_001079804.2:c.1127_1130del NP_001073272.1:p.Trp376SerfsTer15
XM_005257193.2:c.1127_1130del XP_005257250.1:p.Trp376SerfsTer15
XM_005257194.4:c.1127_1130del XP_005257251.1:p.Trp376SerfsTer15
NM_000152.5:c.1127_1130del MANE Select NP_000143.2:p.Trp376SerfsTer15
NM_001079803.3:c.1127_1130del NP_001073271.1:p.Trp376SerfsTer15
NM_001079804.3:c.1127_1130del NP_001073272.1:p.Trp376SerfsTer15
Search 100 bp 5'
Search 100 bp 3'