Canonical Allele Identifier: CA2640269553

Gene: GAA

Linked Data

• gnomAD v4: 17-80101609-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101615_80101616del , CM000679.2:g.80101615_80101616del	GRCh38
NC_000017.10:g.78075414_78075415del , CM000679.1:g.78075414_78075415del	GRCh37
NC_000017.9:g.75690009_75690010del	NCBI36
NG_009822.1:g.5060_5061del , LRG_673:g.5060_5061del
NG_029761.1:g.69984_69985del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-43_-42del	ENSP00000460543.2:n.-43_-42del
ENST00000572080.2:c.-123_-122del	ENSP00000459972.2:n.-123_-122del
ENST00000577106.6:c.-158_-157del	ENSP00000458306.2:n.-158_-157del
ENST00000302262.8:c.-308_-307del MANE Select	ENSP00000305692.3:n.-308_-307del
ENST00000390015.7:c.-123_-122del	ENSP00000374665.3:n.-123_-122del
ENST00000570803.5:c.-43_-42del	ENSP00000460543.1:n.-43_-42del
ENST00000574376.1:n.19_20del
ENST00000577106.5:c.-158_-157del	ENSP00000458306.1:n.-158_-157del
NM_000152.3:c.-308_-307del , LRG_673t1:c.-308_-307del	NP_000143.2:n.-308_-307del
NM_001079803.1:c.-123_-122del	NP_001073271.1:n.-123_-122del
NM_001079804.1:c.-43_-42del	NP_001073272.1:n.-43_-42del
XM_005257194.3:c.-158_-157del	XP_005257251.1:n.-158_-157del
NM_000152.4:c.-308_-307del	NP_000143.2:n.-308_-307del
NM_001079803.2:c.-123_-122del	NP_001073271.1:n.-123_-122del
NM_001079804.2:c.-43_-42del	NP_001073272.1:n.-43_-42del
NR_134848.1:n.90_91del
XM_005257194.4:c.-158_-157del	XP_005257251.1:n.-158_-157del
NM_000152.5:c.-308_-307del MANE Select	NP_000143.2:n.-308_-307del
NM_001079803.3:c.-123_-122del	NP_001073271.1:n.-123_-122del
NM_001079804.3:c.-43_-42del	NP_001073272.1:n.-43_-42del
NR_134848.2:n.35_36del