Canonical Allele Identifier: CA2573154967

Gene: GAA

Linked Data

• ClinVar Variation Id: 1425386
• ClinVar RCV Id: RCV001926598
• dbSNP Id: rs2143926009

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117738_80117739del , CM000679.2:g.80117738_80117739del	GRCh38
NC_000017.10:g.78091537_78091538del , CM000679.1:g.78091537_78091538del	GRCh37
NC_000017.9:g.75706132_75706133del	NCBI36
NG_009822.1:g.21183_21184del , LRG_673:g.21183_21184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2470_2471del	ENSP00000460543.2:p.Ile824ProfsTer?
ENST00000572080.2:c.*608_*609del	ENSP00000459972.2:n.*608_*609del
ENST00000577106.6:c.2470_2471del	ENSP00000458306.2:p.Ile824ProfsTer?
ENST00000302262.8:c.2470_2471del MANE Select	ENSP00000305692.3:p.Ile824ProfsTer?
ENST00000302262.7:c.2470_2471del	ENSP00000305692.3:p.Ile824ProfsTer?
ENST00000390015.7:c.2470_2471del	ENSP00000374665.3:p.Ile824ProfsTer?
ENST00000573556.1:n.423_424del
NM_000152.3:c.2470_2471del , LRG_673t1:c.2470_2471del	NP_000143.2:p.Ile824ProfsTer?
NM_001079803.1:c.2470_2471del	NP_001073271.1:p.Ile824ProfsTer?
NM_001079804.1:c.2470_2471del	NP_001073272.1:p.Ile824ProfsTer?
XM_005257193.1:c.2470_2471del	XP_005257250.1:p.Ile824ProfsTer?
XM_005257194.3:c.2470_2471del	XP_005257251.1:p.Ile824ProfsTer?
NM_000152.4:c.2470_2471del	NP_000143.2:p.Ile824ProfsTer?
NM_001079803.2:c.2470_2471del	NP_001073271.1:p.Ile824ProfsTer?
NM_001079804.2:c.2470_2471del	NP_001073272.1:p.Ile824ProfsTer?
XM_005257193.2:c.2470_2471del	XP_005257250.1:p.Ile824ProfsTer?
XM_005257194.4:c.2470_2471del	XP_005257251.1:p.Ile824ProfsTer?
NM_000152.5:c.2470_2471del MANE Select	NP_000143.2:p.Ile824ProfsTer?
NM_001079803.3:c.2470_2471del	NP_001073271.1:p.Ile824ProfsTer?
NM_001079804.3:c.2470_2471del	NP_001073272.1:p.Ile824ProfsTer?