Canonical Allele Identifier: CA913184750
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1980660
ClinVar RCV Id: RCV002780301
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104538_80104545delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC , CM000679.2:g.80104538_80104545delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC GRCh38
NC_000017.10:g.78078337_78078344delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC , CM000679.1:g.78078337_78078344delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC GRCh37
NC_000017.9:g.75692932_75692939delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NCBI36
NG_009822.1:g.7983_7990delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC , LRG_673:g.7983_7990delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC ENSP00000460543.2:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
ENST00000572080.2:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC ENSP00000459972.2:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
ENST00000577106.6:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC ENSP00000458306.2:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
ENST00000302262.8:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC MANE Select ENSP00000305692.3:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
ENST00000302262.7:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC ENSP00000305692.3:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
ENST00000390015.7:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC ENSP00000374665.3:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
ENST00000570803.5:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC ENSP00000460543.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
ENST00000577106.5:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC ENSP00000458306.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGG...
NM_000152.3:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC , LRG_673t1:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_000143.2:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCC...
NM_001079803.1:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_001073271.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
NM_001079804.1:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_001073272.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
XM_005257193.1:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC XP_005257250.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
XM_005257194.3:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC XP_005257251.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
NM_000152.4:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_000143.2:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCC...
NM_001079803.2:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_001073271.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
NM_001079804.2:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_001073272.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
XM_005257193.2:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC XP_005257250.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
XM_005257194.4:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC XP_005257251.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
NM_000152.5:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC MANE Select NP_000143.2:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCC...
NM_001079803.3:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_001073271.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
NM_001079804.3:c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC NP_001073272.1:n.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCT...
Search 100 bp 5'
Search 100 bp 3'