Canonical Allele Identifier: CA913186005

Gene: GAA

Linked Data

• ClinVar Variation Id: 932901
• ClinVar RCV Id: RCV001200869
• dbSNP Id: rs2039221468
• ERepo: CA913186005/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80110942_80110944dup , CM000679.2:g.80110942_80110944dup	GRCh38
NC_000017.10:g.78084741_78084743dup , CM000679.1:g.78084741_78084743dup	GRCh37
NC_000017.9:g.75699336_75699338dup	NCBI36
NG_009822.1:g.14387_14389dup , LRG_673:g.14387_14389dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1553_1555dup	ENSP00000460543.2:p.Asp518_Met519insAsn
ENST00000572080.2:c.1553_1555dup	ENSP00000459972.2:p.Asp518_Met519insAsn
ENST00000577106.6:c.1553_1555dup	ENSP00000458306.2:p.Asp518_Met519insAsn
ENST00000302262.8:c.1553_1555dup MANE Select	ENSP00000305692.3:p.Asp518_Met519insAsn
ENST00000302262.7:c.1553_1555dup	ENSP00000305692.3:p.Asp518_Met519insAsn
ENST00000390015.7:c.1553_1555dup	ENSP00000374665.3:p.Asp518_Met519insAsn
NM_000152.3:c.1553_1555dup , LRG_673t1:c.1553_1555dup	NP_000143.2:p.Asp518_Met519insAsn
NM_001079803.1:c.1553_1555dup	NP_001073271.1:p.Asp518_Met519insAsn
NM_001079804.1:c.1553_1555dup	NP_001073272.1:p.Asp518_Met519insAsn
XM_005257193.1:c.1553_1555dup	XP_005257250.1:p.Asp518_Met519insAsn
XM_005257194.3:c.1553_1555dup	XP_005257251.1:p.Asp518_Met519insAsn
NM_000152.4:c.1553_1555dup	NP_000143.2:p.Asp518_Met519insAsn
NM_001079803.2:c.1553_1555dup	NP_001073271.1:p.Asp518_Met519insAsn
NM_001079804.2:c.1553_1555dup	NP_001073272.1:p.Asp518_Met519insAsn
XM_005257193.2:c.1553_1555dup	XP_005257250.1:p.Asp518_Met519insAsn
XM_005257194.4:c.1553_1555dup	XP_005257251.1:p.Asp518_Met519insAsn
NM_000152.5:c.1553_1555dup MANE Select	NP_000143.2:p.Asp518_Met519insAsn
NM_001079803.3:c.1553_1555dup	NP_001073271.1:p.Asp518_Met519insAsn
NM_001079804.3:c.1553_1555dup	NP_001073272.1:p.Asp518_Met519insAsn