Canonical Allele Identifier: CA2499225003

Gene: GAA

Linked Data

• ClinVar Variation Id: 1103967
• ClinVar RCV Id: RCV001427839
• dbSNP Id: rs3071247

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107729_80107730insACCGGGC , CM000679.2:g.80107729_80107730insACCGGGC	GRCh38
NC_000017.10:g.78081528_78081529insACCGGGC , CM000679.1:g.78081528_78081529insACCGGGC	GRCh37
NC_000017.9:g.75696123_75696124insACCGGGC	NCBI36
NG_009822.1:g.11174_11175insACCGGGC , LRG_673:g.11174_11175insACCGGGC

Transcript Alleles

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