Canonical Allele Identifier: CA2277812344

Gene: GAA

Linked Data

• ClinVar Variation Id: 1635358
• ClinVar RCV Id: RCV002135180
• dbSNP Id: rs2039124972

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107727_80107733dup , CM000679.2:g.80107727_80107733dup	GRCh38
NC_000017.10:g.78081526_78081532dup , CM000679.1:g.78081526_78081532dup	GRCh37
NC_000017.9:g.75696121_75696127dup	NCBI36
NG_009822.1:g.11172_11178dup , LRG_673:g.11172_11178dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.858+5_858+11dup	ENSP00000460543.2:n.858+5_858+11dup
ENST00000572080.2:c.858+5_858+11dup	ENSP00000459972.2:n.858+5_858+11dup
ENST00000577106.6:c.858+5_858+11dup	ENSP00000458306.2:n.858+5_858+11dup
ENST00000302262.8:c.858+5_858+11dup MANE Select	ENSP00000305692.3:n.858+5_858+11dup
ENST00000302262.7:c.858+5_858+11dup	ENSP00000305692.3:n.858+5_858+11dup
ENST00000390015.7:c.858+5_858+11dup	ENSP00000374665.3:n.858+5_858+11dup
NM_000152.3:c.858+5_858+11dup , LRG_673t1:c.858+5_858+11dup	NP_000143.2:n.858+5_858+11dup
NM_001079803.1:c.858+5_858+11dup	NP_001073271.1:n.858+5_858+11dup
NM_001079804.1:c.858+5_858+11dup	NP_001073272.1:n.858+5_858+11dup
XM_005257193.1:c.858+5_858+11dup	XP_005257250.1:n.858+5_858+11dup
XM_005257194.3:c.858+5_858+11dup	XP_005257251.1:n.858+5_858+11dup
NM_000152.4:c.858+5_858+11dup	NP_000143.2:n.858+5_858+11dup
NM_001079803.2:c.858+5_858+11dup	NP_001073271.1:n.858+5_858+11dup
NM_001079804.2:c.858+5_858+11dup	NP_001073272.1:n.858+5_858+11dup
XM_005257193.2:c.858+5_858+11dup	XP_005257250.1:n.858+5_858+11dup
XM_005257194.4:c.858+5_858+11dup	XP_005257251.1:n.858+5_858+11dup
NM_000152.5:c.858+5_858+11dup MANE Select	NP_000143.2:n.858+5_858+11dup
NM_001079803.3:c.858+5_858+11dup	NP_001073271.1:n.858+5_858+11dup
NM_001079804.3:c.858+5_858+11dup	NP_001073272.1:n.858+5_858+11dup