Canonical Allele Identifier: CA775523191

Gene: GAA

Linked Data

• dbSNP Id: rs1470813251
• gnomAD v3: 17-80118521-CTT-C
• gnomAD v4: 17-80118521-CTT-C
• MyVariant Identifiers: chr17:g.78092321_78092322del (hg19) ; chr17:g.80118522_80118523del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118523_80118524del , CM000679.2:g.80118523_80118524del	GRCh38
NC_000017.10:g.78092322_78092323del , CM000679.1:g.78092322_78092323del	GRCh37
NC_000017.9:g.75706917_75706918del	NCBI36
NG_009822.1:g.21968_21969del , LRG_673:g.21968_21969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2647-130_2647-129del	ENSP00000460543.2:n.2647-130_2647-129del
ENST00000572080.2:c.*785-130_*785-129del	ENSP00000459972.2:n.*785-130_*785-129del
ENST00000577106.6:c.2647-130_2647-129del	ENSP00000458306.2:n.2647-130_2647-129del
ENST00000302262.8:c.2647-130_2647-129del MANE Select	ENSP00000305692.3:n.2647-130_2647-129del
ENST00000302262.7:c.2647-130_2647-129del	ENSP00000305692.3:n.2647-130_2647-129del
ENST00000390015.7:c.2647-130_2647-129del	ENSP00000374665.3:n.2647-130_2647-129del
ENST00000573556.1:n.600-130_600-129del
NM_000152.3:c.2647-130_2647-129del , LRG_673t1:c.2647-130_2647-129del	NP_000143.2:n.2647-130_2647-129del
NM_001079803.1:c.2647-130_2647-129del	NP_001073271.1:n.2647-130_2647-129del
NM_001079804.1:c.2647-130_2647-129del	NP_001073272.1:n.2647-130_2647-129del
XM_005257193.1:c.2647-130_2647-129del	XP_005257250.1:n.2647-130_2647-129del
XM_005257194.3:c.2647-130_2647-129del	XP_005257251.1:n.2647-130_2647-129del
NM_000152.4:c.2647-130_2647-129del	NP_000143.2:n.2647-130_2647-129del
NM_001079803.2:c.2647-130_2647-129del	NP_001073271.1:n.2647-130_2647-129del
NM_001079804.2:c.2647-130_2647-129del	NP_001073272.1:n.2647-130_2647-129del
XM_005257193.2:c.2647-130_2647-129del	XP_005257250.1:n.2647-130_2647-129del
XM_005257194.4:c.2647-130_2647-129del	XP_005257251.1:n.2647-130_2647-129del
NM_000152.5:c.2647-130_2647-129del MANE Select	NP_000143.2:n.2647-130_2647-129del
NM_001079803.3:c.2647-130_2647-129del	NP_001073271.1:n.2647-130_2647-129del
NM_001079804.3:c.2647-130_2647-129del	NP_001073272.1:n.2647-130_2647-129del