Allele Registry

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Canonical Allele Identifier: CA8815267

Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs769538068

ExAC: 17:78082643 CTG / C

gnomAD v4: 17-80108844-CTG-C

MyVariant Identifiers: chr17:g.78082644_78082645del (hg19) chr17:g.80108845_80108846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80108847_80108848del , CM000679.2:g.80108847_80108848del	GRCh38
NC_000017.10:g.78082646_78082647del , CM000679.1:g.78082646_78082647del	GRCh37
NC_000017.9:g.75697241_75697242del	NCBI36
NG_009822.1:g.12292_12293del , LRG_673:g.12292_12293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1326+19_1326+20del	ENSP00000460543.2:n.1326+19_1326+20del
ENST00000572080.2:c.1326+19_1326+20del	ENSP00000459972.2:n.1326+19_1326+20del
ENST00000577106.6:c.1326+19_1326+20del	ENSP00000458306.2:n.1326+19_1326+20del
ENST00000302262.8:c.1326+19_1326+20del MANE Select	ENSP00000305692.3:n.1326+19_1326+20del
ENST00000302262.7:c.1326+19_1326+20del	ENSP00000305692.3:n.1326+19_1326+20del
ENST00000390015.7:c.1326+19_1326+20del	ENSP00000374665.3:n.1326+19_1326+20del
NM_000152.3:c.1326+19_1326+20del , LRG_673t1:c.1326+19_1326+20del	NP_000143.2:n.1326+19_1326+20del
NM_001079803.1:c.1326+19_1326+20del	NP_001073271.1:n.1326+19_1326+20del
NM_001079804.1:c.1326+19_1326+20del	NP_001073272.1:n.1326+19_1326+20del
XM_005257193.1:c.1326+19_1326+20del	XP_005257250.1:n.1326+19_1326+20del
XM_005257194.3:c.1326+19_1326+20del	XP_005257251.1:n.1326+19_1326+20del
NM_000152.4:c.1326+19_1326+20del	NP_000143.2:n.1326+19_1326+20del
NM_001079803.2:c.1326+19_1326+20del	NP_001073271.1:n.1326+19_1326+20del
NM_001079804.2:c.1326+19_1326+20del	NP_001073272.1:n.1326+19_1326+20del
XM_005257193.2:c.1326+19_1326+20del	XP_005257250.1:n.1326+19_1326+20del
XM_005257194.4:c.1326+19_1326+20del	XP_005257251.1:n.1326+19_1326+20del
NM_000152.5:c.1326+19_1326+20del MANE Select	NP_000143.2:n.1326+19_1326+20del
NM_001079803.3:c.1326+19_1326+20del	NP_001073271.1:n.1326+19_1326+20del
NM_001079804.3:c.1326+19_1326+20del	NP_001073272.1:n.1326+19_1326+20del

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