Canonical Allele Identifier: CA2640292015

Gene: GAA

Linked Data

• gnomAD v4: 17-80118924-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118925_80118926insAG , CM000679.2:g.80118925_80118926insAG	GRCh38
NC_000017.10:g.78092724_78092725insAG , CM000679.1:g.78092724_78092725insAG	GRCh37
NC_000017.9:g.75707319_75707320insAG	NCBI36
NG_009822.1:g.22370_22371insAG , LRG_673:g.22370_22371insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2799+120_2799+121insAG	ENSP00000460543.2:n.2799+120_2799+121insAG
ENST00000572080.2:c.*937+120_*937+121insAG	ENSP00000459972.2:n.*937+120_*937+121insAG
ENST00000577106.6:c.2799+120_2799+121insAG	ENSP00000458306.2:n.2799+120_2799+121insAG
ENST00000302262.8:c.2799+120_2799+121insAG MANE Select	ENSP00000305692.3:n.2799+120_2799+121insAG
ENST00000302262.7:c.2799+120_2799+121insAG	ENSP00000305692.3:n.2799+120_2799+121insAG
ENST00000390015.7:c.2799+120_2799+121insAG	ENSP00000374665.3:n.2799+120_2799+121insAG
ENST00000573556.1:n.752+120_752+121insAG
NM_000152.3:c.2799+120_2799+121insAG , LRG_673t1:c.2799+120_2799+121insAG	NP_000143.2:n.2799+120_2799+121insAG
NM_001079803.1:c.2799+120_2799+121insAG	NP_001073271.1:n.2799+120_2799+121insAG
NM_001079804.1:c.2799+120_2799+121insAG	NP_001073272.1:n.2799+120_2799+121insAG
XM_005257193.1:c.2799+120_2799+121insAG	XP_005257250.1:n.2799+120_2799+121insAG
XM_005257194.3:c.2799+120_2799+121insAG	XP_005257251.1:n.2799+120_2799+121insAG
NM_000152.4:c.2799+120_2799+121insAG	NP_000143.2:n.2799+120_2799+121insAG
NM_001079803.2:c.2799+120_2799+121insAG	NP_001073271.1:n.2799+120_2799+121insAG
NM_001079804.2:c.2799+120_2799+121insAG	NP_001073272.1:n.2799+120_2799+121insAG
XM_005257193.2:c.2799+120_2799+121insAG	XP_005257250.1:n.2799+120_2799+121insAG
XM_005257194.4:c.2799+120_2799+121insAG	XP_005257251.1:n.2799+120_2799+121insAG
NM_000152.5:c.2799+120_2799+121insAG MANE Select	NP_000143.2:n.2799+120_2799+121insAG
NM_001079803.3:c.2799+120_2799+121insAG	NP_001073271.1:n.2799+120_2799+121insAG
NM_001079804.3:c.2799+120_2799+121insAG	NP_001073272.1:n.2799+120_2799+121insAG