Canonical Allele Identifier: CA2277810561
Gene: GAA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80104640_80104641delinsCG , CM000679.2:g.80104640_80104641delinsCG GRCh38
NC_000017.10:g.78078439_78078440delinsCG , CM000679.1:g.78078439_78078440delinsCG GRCh37
NC_000017.9:g.75693034_75693035delinsCG NCBI36
NG_009822.1:g.8085_8086delinsCG , LRG_673:g.8085_8086delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000570803.6:c.54_55delinsCG ENSP00000460543.2:p.Leu18=
ENST00000572080.2:c.54_55delinsCG ENSP00000459972.2:p.Leu18=
ENST00000577106.6:c.54_55delinsCG ENSP00000458306.2:p.Leu18=
ENST00000302262.8:c.54_55delinsCG MANE Select ENSP00000305692.3:p.Leu18=
ENST00000302262.7:c.54_55delinsCG ENSP00000305692.3:p.Leu18=
ENST00000390015.7:c.54_55delinsCG ENSP00000374665.3:p.Leu18=
ENST00000570803.5:c.54_55delinsCG ENSP00000460543.1:p.Leu18=
ENST00000577106.5:c.54_55delinsCG ENSP00000458306.1:p.Leu18=
NM_000152.3:c.54_55delinsCG , LRG_673t1:c.54_55delinsCG NP_000143.2:p.Leu18=
NM_001079803.1:c.54_55delinsCG NP_001073271.1:p.Leu18=
NM_001079804.1:c.54_55delinsCG NP_001073272.1:p.Leu18=
XM_005257193.1:c.54_55delinsCG XP_005257250.1:p.Leu18=
XM_005257194.3:c.54_55delinsCG XP_005257251.1:p.Leu18=
NM_000152.4:c.54_55delinsCG NP_000143.2:p.Leu18=
NM_001079803.2:c.54_55delinsCG NP_001073271.1:p.Leu18=
NM_001079804.2:c.54_55delinsCG NP_001073272.1:p.Leu18=
XM_005257193.2:c.54_55delinsCG XP_005257250.1:p.Leu18=
XM_005257194.4:c.54_55delinsCG XP_005257251.1:p.Leu18=
NM_000152.5:c.54_55delinsCG MANE Select NP_000143.2:p.Leu18=
NM_001079803.3:c.54_55delinsCG NP_001073271.1:p.Leu18=
NM_001079804.3:c.54_55delinsCG NP_001073272.1:p.Leu18=
Search 100 bp 5'
Search 100 bp 3'