Canonical Allele Identifier: CA2277817205

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80116898_80116900delinsCAG , CM000679.2:g.80116898_80116900delinsCAG	GRCh38
NC_000017.10:g.78090697_78090699delinsCAG , CM000679.1:g.78090697_78090699delinsCAG	GRCh37
NC_000017.9:g.75705292_75705294delinsCAG	NCBI36
NG_009822.1:g.20343_20345delinsCAG , LRG_673:g.20343_20345delinsCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.2190-70_2190-68delinsCAG	ENSP00000460543.2:n.2190-70_2190-68delins...
ENST00000572080.2:c.*328-70_*328-68delinsCAG	ENSP00000459972.2:n.*328-70_*328-68delins...
ENST00000577106.6:c.2190-70_2190-68delinsCAG	ENSP00000458306.2:n.2190-70_2190-68delins...
ENST00000302262.8:c.2190-70_2190-68delinsCAG MANE Select	ENSP00000305692.3:n.2190-70_2190-68delins...
ENST00000302262.7:c.2190-70_2190-68delinsCAG	ENSP00000305692.3:n.2190-70_2190-68delins...
ENST00000390015.7:c.2190-70_2190-68delinsCAG	ENSP00000374665.3:n.2190-70_2190-68delins...
ENST00000572080.1:c.609-70_609-68delinsCAG
ENST00000573556.1:n.73_75delinsCAG
NM_000152.3:c.2190-70_2190-68delinsCAG , LRG_673t1:c.2190-70_2190-68delinsCAG	NP_000143.2:n.2190-70_2190-68delinsCAG
NM_001079803.1:c.2190-70_2190-68delinsCAG	NP_001073271.1:n.2190-70_2190-68delinsCAG...
NM_001079804.1:c.2190-70_2190-68delinsCAG	NP_001073272.1:n.2190-70_2190-68delinsCAG...
XM_005257193.1:c.2190-70_2190-68delinsCAG	XP_005257250.1:n.2190-70_2190-68delinsCAG...
XM_005257194.3:c.2190-70_2190-68delinsCAG	XP_005257251.1:n.2190-70_2190-68delinsCAG...
NM_000152.4:c.2190-70_2190-68delinsCAG	NP_000143.2:n.2190-70_2190-68delinsCAG
NM_001079803.2:c.2190-70_2190-68delinsCAG	NP_001073271.1:n.2190-70_2190-68delinsCAG...
NM_001079804.2:c.2190-70_2190-68delinsCAG	NP_001073272.1:n.2190-70_2190-68delinsCAG...
XM_005257193.2:c.2190-70_2190-68delinsCAG	XP_005257250.1:n.2190-70_2190-68delinsCAG...
XM_005257194.4:c.2190-70_2190-68delinsCAG	XP_005257251.1:n.2190-70_2190-68delinsCAG...
NM_000152.5:c.2190-70_2190-68delinsCAG MANE Select	NP_000143.2:n.2190-70_2190-68delinsCAG
NM_001079803.3:c.2190-70_2190-68delinsCAG	NP_001073271.1:n.2190-70_2190-68delinsCAG...
NM_001079804.3:c.2190-70_2190-68delinsCAG	NP_001073272.1:n.2190-70_2190-68delinsCAG...