Canonical Allele Identifier: CA628018314

Gene: GAA

Linked Data

• dbSNP Id: rs1383921210
• gnomAD v2: 17-78081280-GGGGTGCTCTCT-G
• gnomAD v3: 17-80107481-GGGGTGCTCTCT-G
• gnomAD v4: 17-80107481-GGGGTGCTCTCT-G
• MyVariant Identifiers: chr17:g.78081281_78081291del (hg19) ; chr17:g.80107482_80107492del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107492_80107502del , CM000679.2:g.80107492_80107502del	GRCh38
NC_000017.10:g.78081291_78081301del , CM000679.1:g.78081291_78081301del	GRCh37
NC_000017.9:g.75695886_75695896del	NCBI36
NG_009822.1:g.10937_10947del , LRG_673:g.10937_10947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.693-65_693-55del	ENSP00000460543.2:n.693-65_693-55del
ENST00000572080.2:c.693-65_693-55del	ENSP00000459972.2:n.693-65_693-55del
ENST00000577106.6:c.693-65_693-55del	ENSP00000458306.2:n.693-65_693-55del
ENST00000302262.8:c.693-65_693-55del MANE Select	ENSP00000305692.3:n.693-65_693-55del
ENST00000302262.7:c.693-65_693-55del	ENSP00000305692.3:n.693-65_693-55del
ENST00000390015.7:c.693-65_693-55del	ENSP00000374665.3:n.693-65_693-55del
ENST00000570803.5:c.693-65_693-55del	ENSP00000460543.1:n.693-65_693-55del
NM_000152.3:c.693-65_693-55del , LRG_673t1:c.693-65_693-55del	NP_000143.2:n.693-65_693-55del
NM_001079803.1:c.693-65_693-55del	NP_001073271.1:n.693-65_693-55del
NM_001079804.1:c.693-65_693-55del	NP_001073272.1:n.693-65_693-55del
XM_005257193.1:c.693-65_693-55del	XP_005257250.1:n.693-65_693-55del
XM_005257194.3:c.693-65_693-55del	XP_005257251.1:n.693-65_693-55del
NM_000152.4:c.693-65_693-55del	NP_000143.2:n.693-65_693-55del
NM_001079803.2:c.693-65_693-55del	NP_001073271.1:n.693-65_693-55del
NM_001079804.2:c.693-65_693-55del	NP_001073272.1:n.693-65_693-55del
XM_005257193.2:c.693-65_693-55del	XP_005257250.1:n.693-65_693-55del
XM_005257194.4:c.693-65_693-55del	XP_005257251.1:n.693-65_693-55del
NM_000152.5:c.693-65_693-55del MANE Select	NP_000143.2:n.693-65_693-55del
NM_001079803.3:c.693-65_693-55del	NP_001073271.1:n.693-65_693-55del
NM_001079804.3:c.693-65_693-55del	NP_001073272.1:n.693-65_693-55del