Canonical Allele Identifier: CA658795278

Gene: GAA

Linked Data

• ClinVar Variation Id: 917665
• ClinVar RCV Id: RCV001174788
• dbSNP Id: rs2039364779

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80116997_80116998del , CM000679.2:g.80116997_80116998del	GRCh38
NC_000017.10:g.78090796_78090797del , CM000679.1:g.78090796_78090797del	GRCh37
NC_000017.9:g.75705391_75705392del	NCBI36
NG_009822.1:g.20442_20443del , LRG_673:g.20442_20443del

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.2219_2220del	ENSP00000460543.2:p.Val740GlyfsTer?
ENST00000572080.2:c.*357_*358del	ENSP00000459972.2:n.*357_*358del
ENST00000577106.6:c.2219_2220del	ENSP00000458306.2:p.Val740GlyfsTer?
ENST00000302262.8:c.2219_2220del MANE Select	ENSP00000305692.3:p.Val740GlyfsTer?
ENST00000302262.7:c.2219_2220del	ENSP00000305692.3:p.Val740GlyfsTer?
ENST00000390015.7:c.2219_2220del	ENSP00000374665.3:p.Val740GlyfsTer?
ENST00000572080.1:c.638_639del
ENST00000573556.1:n.172_173del
NM_000152.3:c.2219_2220del , LRG_673t1:c.2219_2220del	NP_000143.2:p.Val740GlyfsTer?
NM_001079803.1:c.2219_2220del	NP_001073271.1:p.Val740GlyfsTer?
NM_001079804.1:c.2219_2220del	NP_001073272.1:p.Val740GlyfsTer?
XM_005257193.1:c.2219_2220del	XP_005257250.1:p.Val740GlyfsTer?
XM_005257194.3:c.2219_2220del	XP_005257251.1:p.Val740GlyfsTer?
NM_000152.4:c.2219_2220del	NP_000143.2:p.Val740GlyfsTer?
NM_001079803.2:c.2219_2220del	NP_001073271.1:p.Val740GlyfsTer?
NM_001079804.2:c.2219_2220del	NP_001073272.1:p.Val740GlyfsTer?
XM_005257193.2:c.2219_2220del	XP_005257250.1:p.Val740GlyfsTer?
XM_005257194.4:c.2219_2220del	XP_005257251.1:p.Val740GlyfsTer?
NM_000152.5:c.2219_2220del MANE Select	NP_000143.2:p.Val740GlyfsTer?
NM_001079803.3:c.2219_2220del	NP_001073271.1:p.Val740GlyfsTer?
NM_001079804.3:c.2219_2220del	NP_001073272.1:p.Val740GlyfsTer?