Canonical Allele Identifier: CA913191011
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 597005
ClinVar RCV Id: RCV000732997 RCV001789710
dbSNP Id: rs1555603219
ERepo: CA913191011/MONDO:0009290/010
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80118661_80118662del , CM000679.2:g.80118661_80118662del GRCh38
NC_000017.10:g.78092460_78092461del , CM000679.1:g.78092460_78092461del GRCh37
NC_000017.9:g.75707055_75707056del NCBI36
NG_009822.1:g.22106_22107del , LRG_673:g.22106_22107del

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.2655_2656del ENSP00000460543.2:p.Val886GlufsTer2
ENST00000572080.2:c.*793_*794del ENSP00000459972.2:n.*793_*794del
ENST00000577106.6:c.2655_2656del ENSP00000458306.2:p.Val886GlufsTer2
ENST00000302262.8:c.2655_2656del MANE Select ENSP00000305692.3:p.Val886GlufsTer2
ENST00000302262.7:c.2655_2656del ENSP00000305692.3:p.Val886GlufsTer2
ENST00000390015.7:c.2655_2656del ENSP00000374665.3:p.Val886GlufsTer2
ENST00000573556.1:n.608_609del
NM_000152.3:c.2655_2656del , LRG_673t1:c.2655_2656del NP_000143.2:p.Val886GlufsTer2
NM_001079803.1:c.2655_2656del NP_001073271.1:p.Val886GlufsTer2
NM_001079804.1:c.2655_2656del NP_001073272.1:p.Val886GlufsTer2
XM_005257193.1:c.2655_2656del XP_005257250.1:p.Val886GlufsTer2
XM_005257194.3:c.2655_2656del XP_005257251.1:p.Val886GlufsTer2
NM_000152.4:c.2655_2656del NP_000143.2:p.Val886GlufsTer2
NM_001079803.2:c.2655_2656del NP_001073271.1:p.Val886GlufsTer2
NM_001079804.2:c.2655_2656del NP_001073272.1:p.Val886GlufsTer2
XM_005257193.2:c.2655_2656del XP_005257250.1:p.Val886GlufsTer2
XM_005257194.4:c.2655_2656del XP_005257251.1:p.Val886GlufsTer2
NM_000152.5:c.2655_2656del MANE Select NP_000143.2:p.Val886GlufsTer2
NM_001079803.3:c.2655_2656del NP_001073271.1:p.Val886GlufsTer2
NM_001079804.3:c.2655_2656del NP_001073272.1:p.Val886GlufsTer2
Search 100 bp 5'
Search 100 bp 3'