Canonical Allele Identifier: CA627697927

Gene: GAA

Linked Data

• dbSNP Id: rs1369925028
• gnomAD v2: 17-78075444-CGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT-C
• gnomAD v3: 17-80101645-CGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT-C
• gnomAD v4: 17-80101645-CGGGGCTTCCCTGAGCGCGGGCCGGGTCGGT-C
• MyVariant Identifiers: chr17:g.78075445_78075474del (hg19) ; chr17:g.80101646_80101675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101651_80101680del , CM000679.2:g.80101651_80101680del	GRCh38
NC_000017.10:g.78075450_78075479del , CM000679.1:g.78075450_78075479del	GRCh37
NC_000017.9:g.75690045_75690074del	NCBI36
NG_009822.1:g.5096_5125del , LRG_673:g.5096_5125del
NG_029761.1:g.70020_70049del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-33+26_-33+55del	ENSP00000460543.2:n.-33+26_-33+55del
ENST00000572080.2:c.-113+26_-113+55del	ENSP00000459972.2:n.-113+26_-113+55del
ENST00000577106.6:c.-148+26_-148+55del	ENSP00000458306.2:n.-148+26_-148+55del
ENST00000302262.8:c.-272_-243del MANE Select	ENSP00000305692.3:n.-272_-243del
ENST00000390015.7:c.-113+26_-113+55del	ENSP00000374665.3:n.-113+26_-113+55del
ENST00000570803.5:c.-33+26_-33+55del	ENSP00000460543.1:n.-33+26_-33+55del
ENST00000574376.1:n.29+26_29+55del
ENST00000577106.5:c.-148+26_-148+55del	ENSP00000458306.1:n.-148+26_-148+55del
NM_000152.3:c.-272_-243del , LRG_673t1:c.-272_-243del	NP_000143.2:n.-272_-243del
NM_001079803.1:c.-113+26_-113+55del	NP_001073271.1:n.-113+26_-113+55del
NM_001079804.1:c.-33+26_-33+55del	NP_001073272.1:n.-33+26_-33+55del
XM_005257193.1:c.-182_-153del	XP_005257250.1:n.-182_-153del
XM_005257194.3:c.-148+26_-148+55del	XP_005257251.1:n.-148+26_-148+55del
NM_000152.4:c.-272_-243del	NP_000143.2:n.-272_-243del
NM_001079803.2:c.-113+26_-113+55del	NP_001073271.1:n.-113+26_-113+55del
NM_001079804.2:c.-33+26_-33+55del	NP_001073272.1:n.-33+26_-33+55del
NR_134848.1:n.100+26_100+55del
XM_005257193.2:c.-182_-153del	XP_005257250.1:n.-182_-153del
XM_005257194.4:c.-148+26_-148+55del	XP_005257251.1:n.-148+26_-148+55del
NM_000152.5:c.-272_-243del MANE Select	NP_000143.2:n.-272_-243del
NM_001079803.3:c.-113+26_-113+55del	NP_001073271.1:n.-113+26_-113+55del
NM_001079804.3:c.-33+26_-33+55del	NP_001073272.1:n.-33+26_-33+55del
NR_134848.2:n.45+26_45+55del