Canonical Allele Identifier: CA2640276943

Gene: GAA

Linked Data

• gnomAD v4: 17-80105226-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105227_80105228dup , CM000679.2:g.80105227_80105228dup	GRCh38
NC_000017.10:g.78079026_78079027dup , CM000679.1:g.78079026_78079027dup	GRCh37
NC_000017.9:g.75693621_75693622dup	NCBI36
NG_009822.1:g.8672_8673dup , LRG_673:g.8672_8673dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.546+95_546+96dup	ENSP00000460543.2:n.546+95_546+96dup
ENST00000572080.2:c.546+95_546+96dup	ENSP00000459972.2:n.546+95_546+96dup
ENST00000577106.6:c.546+95_546+96dup	ENSP00000458306.2:n.546+95_546+96dup
ENST00000302262.8:c.546+95_546+96dup MANE Select	ENSP00000305692.3:n.546+95_546+96dup
ENST00000302262.7:c.546+95_546+96dup	ENSP00000305692.3:n.546+95_546+96dup
ENST00000390015.7:c.546+95_546+96dup	ENSP00000374665.3:n.546+95_546+96dup
ENST00000570803.5:c.546+95_546+96dup	ENSP00000460543.1:n.546+95_546+96dup
ENST00000577106.5:c.546+95_546+96dup	ENSP00000458306.1:n.546+95_546+96dup
NM_000152.3:c.546+95_546+96dup , LRG_673t1:c.546+95_546+96dup	NP_000143.2:n.546+95_546+96dup
NM_001079803.1:c.546+95_546+96dup	NP_001073271.1:n.546+95_546+96dup
NM_001079804.1:c.546+95_546+96dup	NP_001073272.1:n.546+95_546+96dup
XM_005257193.1:c.546+95_546+96dup	XP_005257250.1:n.546+95_546+96dup
XM_005257194.3:c.546+95_546+96dup	XP_005257251.1:n.546+95_546+96dup
NM_000152.4:c.546+95_546+96dup	NP_000143.2:n.546+95_546+96dup
NM_001079803.2:c.546+95_546+96dup	NP_001073271.1:n.546+95_546+96dup
NM_001079804.2:c.546+95_546+96dup	NP_001073272.1:n.546+95_546+96dup
XM_005257193.2:c.546+95_546+96dup	XP_005257250.1:n.546+95_546+96dup
XM_005257194.4:c.546+95_546+96dup	XP_005257251.1:n.546+95_546+96dup
NM_000152.5:c.546+95_546+96dup MANE Select	NP_000143.2:n.546+95_546+96dup
NM_001079803.3:c.546+95_546+96dup	NP_001073271.1:n.546+95_546+96dup
NM_001079804.3:c.546+95_546+96dup	NP_001073272.1:n.546+95_546+96dup