Canonical Allele Identifier: CA2695200360

Gene: GAA

Linked Data

• ClinVar Variation Id: 2675775
• ClinVar RCV Id: RCV003461609

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80118678del , CM000679.2:g.80118678del	GRCh38
NC_000017.10:g.78092477del , CM000679.1:g.78092477del	GRCh37
NC_000017.9:g.75707072del	NCBI36
NG_009822.1:g.22123del , LRG_673:g.22123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2672del	ENSP00000460543.2:p.Arg891LeufsTer2
ENST00000572080.2:c.*810del	ENSP00000459972.2:n.*810del
ENST00000577106.6:c.2672del	ENSP00000458306.2:p.Arg891LeufsTer2
ENST00000302262.8:c.2672del MANE Select	ENSP00000305692.3:p.Arg891LeufsTer2
ENST00000302262.7:c.2672del	ENSP00000305692.3:p.Arg891LeufsTer2
ENST00000390015.7:c.2672del	ENSP00000374665.3:p.Arg891LeufsTer2
ENST00000573556.1:n.625del
NM_000152.3:c.2672del , LRG_673t1:c.2672del	NP_000143.2:p.Arg891LeufsTer2
NM_001079803.1:c.2672del	NP_001073271.1:p.Arg891LeufsTer2
NM_001079804.1:c.2672del	NP_001073272.1:p.Arg891LeufsTer2
XM_005257193.1:c.2672del	XP_005257250.1:p.Arg891LeufsTer2
XM_005257194.3:c.2672del	XP_005257251.1:p.Arg891LeufsTer2
NM_000152.4:c.2672del	NP_000143.2:p.Arg891LeufsTer2
NM_001079803.2:c.2672del	NP_001073271.1:p.Arg891LeufsTer2
NM_001079804.2:c.2672del	NP_001073272.1:p.Arg891LeufsTer2
XM_005257193.2:c.2672del	XP_005257250.1:p.Arg891LeufsTer2
XM_005257194.4:c.2672del	XP_005257251.1:p.Arg891LeufsTer2
NM_000152.5:c.2672del MANE Select	NP_000143.2:p.Arg891LeufsTer2
NM_001079803.3:c.2672del	NP_001073271.1:p.Arg891LeufsTer2
NM_001079804.3:c.2672del	NP_001073272.1:p.Arg891LeufsTer2