Canonical Allele Identifier: CA775514379
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs1298636062
MyVariant Identifiers: chr17:g.78084538_78084539insC (hg19) chr17:g.80110739_80110740insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110741dup , CM000679.2:g.80110741dup GRCh38
NC_000017.10:g.78084540dup , CM000679.1:g.78084540dup GRCh37
NC_000017.9:g.75699135dup NCBI36
NG_009822.1:g.14186dup , LRG_673:g.14186dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1452dup ENSP00000460543.2:p.Thr485HisfsTer21
ENST00000572080.2:c.1452dup ENSP00000459972.2:p.Thr485HisfsTer21
ENST00000577106.6:c.1452dup ENSP00000458306.2:p.Thr485HisfsTer21
ENST00000302262.8:c.1452dup MANE Select ENSP00000305692.3:p.Thr485HisfsTer21
ENST00000302262.7:c.1452dup ENSP00000305692.3:p.Thr485HisfsTer21
ENST00000390015.7:c.1452dup ENSP00000374665.3:p.Thr485HisfsTer21
NM_000152.3:c.1452dup , LRG_673t1:c.1452dup NP_000143.2:p.Thr485HisfsTer21
NM_001079803.1:c.1452dup NP_001073271.1:p.Thr485HisfsTer21
NM_001079804.1:c.1452dup NP_001073272.1:p.Thr485HisfsTer21
XM_005257193.1:c.1452dup XP_005257250.1:p.Thr485HisfsTer21
XM_005257194.3:c.1452dup XP_005257251.1:p.Thr485HisfsTer21
NM_000152.4:c.1452dup NP_000143.2:p.Thr485HisfsTer21
NM_001079803.2:c.1452dup NP_001073271.1:p.Thr485HisfsTer21
NM_001079804.2:c.1452dup NP_001073272.1:p.Thr485HisfsTer21
XM_005257193.2:c.1452dup XP_005257250.1:p.Thr485HisfsTer21
XM_005257194.4:c.1452dup XP_005257251.1:p.Thr485HisfsTer21
NM_000152.5:c.1452dup MANE Select NP_000143.2:p.Thr485HisfsTer21
NM_001079803.3:c.1452dup NP_001073271.1:p.Thr485HisfsTer21
NM_001079804.3:c.1452dup NP_001073272.1:p.Thr485HisfsTer21
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