Canonical Allele Identifier: CA986705423

Gene: GAA

Linked Data

• gnomAD v3: 17-80107908-G-GCCCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCA
• gnomAD v4: 17-80107908-G-GCCCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107910_80107911insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC , CM000679.2:g.80107910_80107911insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	GRCh38
NC_000017.10:g.78081709_78081710insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC , CM000679.1:g.78081709_78081710insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	GRCh37
NC_000017.9:g.75696304_75696305insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NCBI36
NG_009822.1:g.11355_11356insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC , LRG_673:g.11355_11356insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	ENSP00000460543.2:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCC...
ENST00000572080.2:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	ENSP00000459972.2:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCC...
ENST00000577106.6:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	ENSP00000458306.2:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCC...
ENST00000302262.8:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC MANE Select	ENSP00000305692.3:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCC...
ENST00000302262.7:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	ENSP00000305692.3:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCC...
ENST00000390015.7:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	ENSP00000374665.3:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCC...
NM_000152.3:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC , LRG_673t1:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_000143.2:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTG...
NM_001079803.1:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_001073271.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
NM_001079804.1:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_001073272.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
XM_005257193.1:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	XP_005257250.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
XM_005257194.3:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	XP_005257251.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
NM_000152.4:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_000143.2:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTG...
NM_001079803.2:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_001073271.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
NM_001079804.2:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_001073272.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
XM_005257193.2:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	XP_005257250.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
XM_005257194.4:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	XP_005257251.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
NM_000152.5:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC MANE Select	NP_000143.2:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTG...
NM_001079803.3:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_001073271.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...
NM_001079804.3:c.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTGCTGCCTGCCCTGGGCGGTGGGCAGCTTACCCATGGCATTGCTGTCCACC	NP_001073272.1:n.955+14_955+15insCAGCGCCCGGGCCGGGGTCTCCTCCGTG...