Canonical Allele Identifier: CA2573154959
Gene: GAA HGNC NCBI

Linked Data

ClinVar Variation Id: 1355688
ClinVar RCV Id: RCV001867048
dbSNP Id: rs2143857460
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80108736_80108738dup , CM000679.2:g.80108736_80108738dup GRCh38
NC_000017.10:g.78082535_78082537dup , CM000679.1:g.78082535_78082537dup GRCh37
NC_000017.9:g.75697130_75697132dup NCBI36
NG_009822.1:g.12181_12183dup , LRG_673:g.12181_12183dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1234_1236dup ENSP00000460543.2:p.Arg412_Asp413insArg
ENST00000572080.2:c.1234_1236dup ENSP00000459972.2:p.Arg412_Asp413insArg
ENST00000577106.6:c.1234_1236dup ENSP00000458306.2:p.Arg412_Asp413insArg
ENST00000302262.8:c.1234_1236dup MANE Select ENSP00000305692.3:p.Arg412_Asp413insArg
ENST00000302262.7:c.1234_1236dup ENSP00000305692.3:p.Arg412_Asp413insArg
ENST00000390015.7:c.1234_1236dup ENSP00000374665.3:p.Arg412_Asp413insArg
NM_000152.3:c.1234_1236dup , LRG_673t1:c.1234_1236dup NP_000143.2:p.Arg412_Asp413insArg
NM_001079803.1:c.1234_1236dup NP_001073271.1:p.Arg412_Asp413insArg
NM_001079804.1:c.1234_1236dup NP_001073272.1:p.Arg412_Asp413insArg
XM_005257193.1:c.1234_1236dup XP_005257250.1:p.Arg412_Asp413insArg
XM_005257194.3:c.1234_1236dup XP_005257251.1:p.Arg412_Asp413insArg
NM_000152.4:c.1234_1236dup NP_000143.2:p.Arg412_Asp413insArg
NM_001079803.2:c.1234_1236dup NP_001073271.1:p.Arg412_Asp413insArg
NM_001079804.2:c.1234_1236dup NP_001073272.1:p.Arg412_Asp413insArg
XM_005257193.2:c.1234_1236dup XP_005257250.1:p.Arg412_Asp413insArg
XM_005257194.4:c.1234_1236dup XP_005257251.1:p.Arg412_Asp413insArg
NM_000152.5:c.1234_1236dup MANE Select NP_000143.2:p.Arg412_Asp413insArg
NM_001079803.3:c.1234_1236dup NP_001073271.1:p.Arg412_Asp413insArg
NM_001079804.3:c.1234_1236dup NP_001073272.1:p.Arg412_Asp413insArg
Search 100 bp 5'
Search 100 bp 3'