Canonical Allele Identifier: CA658824787

Gene: GAA

Linked Data

• ClinVar Variation Id: 552162
• ClinVar RCV Id: RCV000667381
• dbSNP Id: rs1555601721
• MyVariant Identifiers: chr17:g.80113230_80113247del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113230_80113247del , CM000679.2:g.80113230_80113247del	GRCh38
NC_000017.10:g.78087029_78087046del , CM000679.1:g.78087029_78087046del	GRCh37
NC_000017.9:g.75701624_75701641del	NCBI36
NG_009822.1:g.16675_16692del , LRG_673:g.16675_16692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2053_2070del	ENSP00000460543.2:p.Tyr685_Pro690del
ENST00000572080.2:c.*191_*208del	ENSP00000459972.2:n.*191_*208del
ENST00000577106.6:c.2053_2070del	ENSP00000458306.2:p.Tyr685_Pro690del
ENST00000302262.8:c.2053_2070del MANE Select	ENSP00000305692.3:p.Tyr685_Pro690del
ENST00000302262.7:c.2053_2070del	ENSP00000305692.3:p.Tyr685_Pro690del
ENST00000390015.7:c.2053_2070del	ENSP00000374665.3:p.Tyr685_Pro690del
ENST00000570716.1:n.493_510del
ENST00000572080.1:c.472_489del
NM_000152.3:c.2053_2070del , LRG_673t1:c.2053_2070del	NP_000143.2:p.Tyr685_Pro690del
NM_001079803.1:c.2053_2070del	NP_001073271.1:p.Tyr685_Pro690del
NM_001079804.1:c.2053_2070del	NP_001073272.1:p.Tyr685_Pro690del
XM_005257193.1:c.2053_2070del	XP_005257250.1:p.Tyr685_Pro690del
XM_005257194.3:c.2053_2070del	XP_005257251.1:p.Tyr685_Pro690del
NM_000152.4:c.2053_2070del	NP_000143.2:p.Tyr685_Pro690del
NM_001079803.2:c.2053_2070del	NP_001073271.1:p.Tyr685_Pro690del
NM_001079804.2:c.2053_2070del	NP_001073272.1:p.Tyr685_Pro690del
XM_005257193.2:c.2053_2070del	XP_005257250.1:p.Tyr685_Pro690del
XM_005257194.4:c.2053_2070del	XP_005257251.1:p.Tyr685_Pro690del
NM_000152.5:c.2053_2070del MANE Select	NP_000143.2:p.Tyr685_Pro690del
NM_001079803.3:c.2053_2070del	NP_001073271.1:p.Tyr685_Pro690del
NM_001079804.3:c.2053_2070del	NP_001073272.1:p.Tyr685_Pro690del