Canonical Allele Identifier: CA915952255

Gene: GAA

Linked Data

• ClinVar Variation Id: 656668
• ClinVar RCV Id: RCV000813141
• dbSNP Id: rs1598586309

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113234_80113235delinsAA , CM000679.2:g.80113234_80113235delinsAA	GRCh38
NC_000017.10:g.78087033_78087034delinsAA , CM000679.1:g.78087033_78087034delinsAA	GRCh37
NC_000017.9:g.75701628_75701629delinsAA	NCBI36
NG_009822.1:g.16679_16680delinsAA , LRG_673:g.16679_16680delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2057_2058delinsAA	ENSP00000460543.2:p.Ser686Lys
ENST00000572080.2:c.*195_*196delinsAA	ENSP00000459972.2:n.*195_*196delinsAA
ENST00000577106.6:c.2057_2058delinsAA	ENSP00000458306.2:p.Ser686Lys
ENST00000302262.8:c.2057_2058delinsAA MANE Select	ENSP00000305692.3:p.Ser686Lys
ENST00000302262.7:c.2057_2058delinsAA	ENSP00000305692.3:p.Ser686Lys
ENST00000390015.7:c.2057_2058delinsAA	ENSP00000374665.3:p.Ser686Lys
ENST00000570716.1:n.497_498delinsAA
ENST00000572080.1:c.476_477delinsAA
NM_000152.3:c.2057_2058delinsAA , LRG_673t1:c.2057_2058delinsAA	NP_000143.2:p.Ser686Lys
NM_001079803.1:c.2057_2058delinsAA	NP_001073271.1:p.Ser686Lys
NM_001079804.1:c.2057_2058delinsAA	NP_001073272.1:p.Ser686Lys
XM_005257193.1:c.2057_2058delinsAA	XP_005257250.1:p.Ser686Lys
XM_005257194.3:c.2057_2058delinsAA	XP_005257251.1:p.Ser686Lys
NM_000152.4:c.2057_2058delinsAA	NP_000143.2:p.Ser686Lys
NM_001079803.2:c.2057_2058delinsAA	NP_001073271.1:p.Ser686Lys
NM_001079804.2:c.2057_2058delinsAA	NP_001073272.1:p.Ser686Lys
XM_005257193.2:c.2057_2058delinsAA	XP_005257250.1:p.Ser686Lys
XM_005257194.4:c.2057_2058delinsAA	XP_005257251.1:p.Ser686Lys
NM_000152.5:c.2057_2058delinsAA MANE Select	NP_000143.2:p.Ser686Lys
NM_001079803.3:c.2057_2058delinsAA	NP_001073271.1:p.Ser686Lys
NM_001079804.3:c.2057_2058delinsAA	NP_001073272.1:p.Ser686Lys