Canonical Allele Identifier: CA2640298999

Gene: GAA

Linked Data

• gnomAD v4: 17-80113494-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113496_80113497insGCA , CM000679.2:g.80113496_80113497insGCA	GRCh38
NC_000017.10:g.78087295_78087296insGCA , CM000679.1:g.78087295_78087296insGCA	GRCh37
NC_000017.9:g.75701890_75701891insGCA	NCBI36
NG_009822.1:g.16941_16942insGCA , LRG_673:g.16941_16942insGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2189+130_2189+131insGCA	ENSP00000460543.2:n.2189+130_2189+131insGCA
ENST00000572080.2:c.*327+130_*327+131insGCA	ENSP00000459972.2:n.*327+130_*327+131insGCA
ENST00000577106.6:c.2189+130_2189+131insGCA	ENSP00000458306.2:n.2189+130_2189+131insGCA
ENST00000302262.8:c.2189+130_2189+131insGCA MANE Select	ENSP00000305692.3:n.2189+130_2189+131insGCA
ENST00000302262.7:c.2189+130_2189+131insGCA	ENSP00000305692.3:n.2189+130_2189+131insGCA
ENST00000390015.7:c.2189+130_2189+131insGCA	ENSP00000374665.3:n.2189+130_2189+131insGCA
ENST00000572080.1:c.608+130_608+131insGCA
NM_000152.3:c.2189+130_2189+131insGCA , LRG_673t1:c.2189+130_2189+131insGCA	NP_000143.2:n.2189+130_2189+131insGCA
NM_001079803.1:c.2189+130_2189+131insGCA	NP_001073271.1:n.2189+130_2189+131insGCA
NM_001079804.1:c.2189+130_2189+131insGCA	NP_001073272.1:n.2189+130_2189+131insGCA
XM_005257193.1:c.2189+130_2189+131insGCA	XP_005257250.1:n.2189+130_2189+131insGCA
XM_005257194.3:c.2189+130_2189+131insGCA	XP_005257251.1:n.2189+130_2189+131insGCA
NM_000152.4:c.2189+130_2189+131insGCA	NP_000143.2:n.2189+130_2189+131insGCA
NM_001079803.2:c.2189+130_2189+131insGCA	NP_001073271.1:n.2189+130_2189+131insGCA
NM_001079804.2:c.2189+130_2189+131insGCA	NP_001073272.1:n.2189+130_2189+131insGCA
XM_005257193.2:c.2189+130_2189+131insGCA	XP_005257250.1:n.2189+130_2189+131insGCA
XM_005257194.4:c.2189+130_2189+131insGCA	XP_005257251.1:n.2189+130_2189+131insGCA
NM_000152.5:c.2189+130_2189+131insGCA MANE Select	NP_000143.2:n.2189+130_2189+131insGCA
NM_001079803.3:c.2189+130_2189+131insGCA	NP_001073271.1:n.2189+130_2189+131insGCA
NM_001079804.3:c.2189+130_2189+131insGCA	NP_001073272.1:n.2189+130_2189+131insGCA