Canonical Allele Identifier: CA2734099026

Gene: GAA

Linked Data

• dbSNP Id: rs2143924341

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117625_80117626insGCCCCCCCCCCCCG , CM000679.2:g.80117625_80117626insGCCCCCCCCCCCCG	GRCh38
NC_000017.10:g.78091424_78091425insGCCCCCCCCCCCCG , CM000679.1:g.78091424_78091425insGCCCCCCCCCCCCG	GRCh37
NC_000017.9:g.75706019_75706020insGCCCCCCCCCCCCG	NCBI36
NG_009822.1:g.21070_21071insGCCCCCCCCCCCCG , LRG_673:g.21070_21071insGCCCCCCCCCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2357_2358insGCCCCCCCCCCCCG	ENSP00000460543.2:p.Ala792HisfsTer19
ENST00000572080.2:c.*495_*496insGCCCCCCCCCCCCG	ENSP00000459972.2:n.*495_*496insGCCCCCCCCCCCCG
ENST00000577106.6:c.2357_2358insGCCCCCCCCCCCCG	ENSP00000458306.2:p.Ala792HisfsTer19
ENST00000302262.8:c.2357_2358insGCCCCCCCCCCCCG MANE Select	ENSP00000305692.3:p.Ala792HisfsTer19
ENST00000302262.7:c.2357_2358insGCCCCCCCCCCCCG	ENSP00000305692.3:p.Ala792HisfsTer19
ENST00000390015.7:c.2357_2358insGCCCCCCCCCCCCG	ENSP00000374665.3:p.Ala792HisfsTer19
ENST00000573556.1:n.310_311insGCCCCCCCCCCCCG
NM_000152.3:c.2357_2358insGCCCCCCCCCCCCG , LRG_673t1:c.2357_2358insGCCCCCCCCCCCCG	NP_000143.2:p.Ala792HisfsTer19
NM_001079803.1:c.2357_2358insGCCCCCCCCCCCCG	NP_001073271.1:p.Ala792HisfsTer19
NM_001079804.1:c.2357_2358insGCCCCCCCCCCCCG	NP_001073272.1:p.Ala792HisfsTer19
XM_005257193.1:c.2357_2358insGCCCCCCCCCCCCG	XP_005257250.1:p.Ala792HisfsTer19
XM_005257194.3:c.2357_2358insGCCCCCCCCCCCCG	XP_005257251.1:p.Ala792HisfsTer19
NM_000152.4:c.2357_2358insGCCCCCCCCCCCCG	NP_000143.2:p.Ala792HisfsTer19
NM_001079803.2:c.2357_2358insGCCCCCCCCCCCCG	NP_001073271.1:p.Ala792HisfsTer19
NM_001079804.2:c.2357_2358insGCCCCCCCCCCCCG	NP_001073272.1:p.Ala792HisfsTer19
XM_005257193.2:c.2357_2358insGCCCCCCCCCCCCG	XP_005257250.1:p.Ala792HisfsTer19
XM_005257194.4:c.2357_2358insGCCCCCCCCCCCCG	XP_005257251.1:p.Ala792HisfsTer19
NM_000152.5:c.2357_2358insGCCCCCCCCCCCCG MANE Select	NP_000143.2:p.Ala792HisfsTer19
NM_001079803.3:c.2357_2358insGCCCCCCCCCCCCG	NP_001073271.1:p.Ala792HisfsTer19
NM_001079804.3:c.2357_2358insGCCCCCCCCCCCCG	NP_001073272.1:p.Ala792HisfsTer19