Canonical Allele Identifier: CA913014062

Gene: GAA

Linked Data

• MyVariant Identifiers: chr17:g.78087022_78087040del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113224_80113242del , CM000679.2:g.80113224_80113242del	GRCh38
NC_000017.10:g.78087023_78087041del , CM000679.1:g.78087023_78087041del	GRCh37
NC_000017.9:g.75701618_75701636del	NCBI36
NG_009822.1:g.16669_16687del , LRG_673:g.16669_16687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2047_2065del	ENSP00000460543.2:p.Glu683SerfsTer7
ENST00000572080.2:c.*185_*203del	ENSP00000459972.2:n.*185_*203del
ENST00000577106.6:c.2047_2065del	ENSP00000458306.2:p.Glu683SerfsTer7
ENST00000302262.8:c.2047_2065del MANE Select	ENSP00000305692.3:p.Glu683SerfsTer7
ENST00000302262.7:c.2047_2065del	ENSP00000305692.3:p.Glu683SerfsTer7
ENST00000390015.7:c.2047_2065del	ENSP00000374665.3:p.Glu683SerfsTer7
ENST00000570716.1:n.487_505del
ENST00000572080.1:c.466_484del
NM_000152.3:c.2047_2065del , LRG_673t1:c.2047_2065del	NP_000143.2:p.Glu683SerfsTer7
NM_001079803.1:c.2047_2065del	NP_001073271.1:p.Glu683SerfsTer7
NM_001079804.1:c.2047_2065del	NP_001073272.1:p.Glu683SerfsTer7
XM_005257193.1:c.2047_2065del	XP_005257250.1:p.Glu683SerfsTer7
XM_005257194.3:c.2047_2065del	XP_005257251.1:p.Glu683SerfsTer7
NM_000152.4:c.2047_2065del	NP_000143.2:p.Glu683SerfsTer7
NM_001079803.2:c.2047_2065del	NP_001073271.1:p.Glu683SerfsTer7
NM_001079804.2:c.2047_2065del	NP_001073272.1:p.Glu683SerfsTer7
XM_005257193.2:c.2047_2065del	XP_005257250.1:p.Glu683SerfsTer7
XM_005257194.4:c.2047_2065del	XP_005257251.1:p.Glu683SerfsTer7
NM_000152.5:c.2047_2065del MANE Select	NP_000143.2:p.Glu683SerfsTer7
NM_001079803.3:c.2047_2065del	NP_001073271.1:p.Glu683SerfsTer7
NM_001079804.3:c.2047_2065del	NP_001073272.1:p.Glu683SerfsTer7