Canonical Allele Identifier: CA2277813656
Gene: GAA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80110028_80110032delinsCGAGA , CM000679.2:g.80110028_80110032delinsCGAGA GRCh38
NC_000017.10:g.78083827_78083831delinsCGAGA , CM000679.1:g.78083827_78083831delinsCGAGA GRCh37
NC_000017.9:g.75698422_75698426delinsCGAGA NCBI36
NG_009822.1:g.13473_13477delinsCGAGA , LRG_673:g.13473_13477delinsCGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.1410_1414delinsCGAGA ENSP00000460543.2:p.Asn470=
ENST00000572080.2:c.1410_1414delinsCGAGA ENSP00000459972.2:p.Asn470=
ENST00000577106.6:c.1410_1414delinsCGAGA ENSP00000458306.2:p.Asn470=
ENST00000302262.8:c.1410_1414delinsCGAGA MANE Select ENSP00000305692.3:p.Asn470=
ENST00000302262.7:c.1410_1414delinsCGAGA ENSP00000305692.3:p.Asn470=
ENST00000390015.7:c.1410_1414delinsCGAGA ENSP00000374665.3:p.Asn470=
NM_000152.3:c.1410_1414delinsCGAGA , LRG_673t1:c.1410_1414delinsCGAGA NP_000143.2:p.Asn470=
NM_001079803.1:c.1410_1414delinsCGAGA NP_001073271.1:p.Asn470=
NM_001079804.1:c.1410_1414delinsCGAGA NP_001073272.1:p.Asn470=
XM_005257193.1:c.1410_1414delinsCGAGA XP_005257250.1:p.Asn470=
XM_005257194.3:c.1410_1414delinsCGAGA XP_005257251.1:p.Asn470=
NM_000152.4:c.1410_1414delinsCGAGA NP_000143.2:p.Asn470=
NM_001079803.2:c.1410_1414delinsCGAGA NP_001073271.1:p.Asn470=
NM_001079804.2:c.1410_1414delinsCGAGA NP_001073272.1:p.Asn470=
XM_005257193.2:c.1410_1414delinsCGAGA XP_005257250.1:p.Asn470=
XM_005257194.4:c.1410_1414delinsCGAGA XP_005257251.1:p.Asn470=
NM_000152.5:c.1410_1414delinsCGAGA MANE Select NP_000143.2:p.Asn470=
NM_001079803.3:c.1410_1414delinsCGAGA NP_001073271.1:p.Asn470=
NM_001079804.3:c.1410_1414delinsCGAGA NP_001073272.1:p.Asn470=