Canonical Allele Identifier: CA658798977

Gene: GAA

Linked Data

• ClinVar Variation Id: 511794
• ClinVar RCV Id: RCV000610465 ; RCV002498928
• dbSNP Id: rs1555599729

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107730_80107732delinsAGCGGGCGGT , CM000679.2:g.80107730_80107732delinsAGCGGGCGGT	GRCh38
NC_000017.10:g.78081529_78081531delinsAGCGGGCGGT , CM000679.1:g.78081529_78081531delinsAGCGGGCGGT	GRCh37
NC_000017.9:g.75696124_75696126delinsAGCGGGCGGT	NCBI36
NG_009822.1:g.11175_11177delinsAGCGGGCGGT , LRG_673:g.11175_11177delinsAGCGGGCGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.858+8_858+10delinsAGCGGGCGGT	ENSP00000460543.2:n.858+8_858+10delinsAGCGGGCGGT
ENST00000572080.2:c.858+8_858+10delinsAGCGGGCGGT	ENSP00000459972.2:n.858+8_858+10delinsAGCGGGCGGT
ENST00000577106.6:c.858+8_858+10delinsAGCGGGCGGT	ENSP00000458306.2:n.858+8_858+10delinsAGCGGGCGGT
ENST00000302262.8:c.858+8_858+10delinsAGCGGGCGGT MANE Select	ENSP00000305692.3:n.858+8_858+10delinsAGCGGGCGGT
ENST00000302262.7:c.858+8_858+10delinsAGCGGGCGGT	ENSP00000305692.3:n.858+8_858+10delinsAGCGGGCGGT
ENST00000390015.7:c.858+8_858+10delinsAGCGGGCGGT	ENSP00000374665.3:n.858+8_858+10delinsAGCGGGCGGT
NM_000152.3:c.858+8_858+10delinsAGCGGGCGGT , LRG_673t1:c.858+8_858+10delinsAGCGGGCGGT	NP_000143.2:n.858+8_858+10delinsAGCGGGCGGT
NM_001079803.1:c.858+8_858+10delinsAGCGGGCGGT	NP_001073271.1:n.858+8_858+10delinsAGCGGGCGGT
NM_001079804.1:c.858+8_858+10delinsAGCGGGCGGT	NP_001073272.1:n.858+8_858+10delinsAGCGGGCGGT
XM_005257193.1:c.858+8_858+10delinsAGCGGGCGGT	XP_005257250.1:n.858+8_858+10delinsAGCGGGCGGT
XM_005257194.3:c.858+8_858+10delinsAGCGGGCGGT	XP_005257251.1:n.858+8_858+10delinsAGCGGGCGGT
NM_000152.4:c.858+8_858+10delinsAGCGGGCGGT	NP_000143.2:n.858+8_858+10delinsAGCGGGCGGT
NM_001079803.2:c.858+8_858+10delinsAGCGGGCGGT	NP_001073271.1:n.858+8_858+10delinsAGCGGGCGGT
NM_001079804.2:c.858+8_858+10delinsAGCGGGCGGT	NP_001073272.1:n.858+8_858+10delinsAGCGGGCGGT
XM_005257193.2:c.858+8_858+10delinsAGCGGGCGGT	XP_005257250.1:n.858+8_858+10delinsAGCGGGCGGT
XM_005257194.4:c.858+8_858+10delinsAGCGGGCGGT	XP_005257251.1:n.858+8_858+10delinsAGCGGGCGGT
NM_000152.5:c.858+8_858+10delinsAGCGGGCGGT MANE Select	NP_000143.2:n.858+8_858+10delinsAGCGGGCGGT
NM_001079803.3:c.858+8_858+10delinsAGCGGGCGGT	NP_001073271.1:n.858+8_858+10delinsAGCGGGCGGT
NM_001079804.3:c.858+8_858+10delinsAGCGGGCGGT	NP_001073272.1:n.858+8_858+10delinsAGCGGGCGGT