Canonical Allele Identifier: CA8815033

Gene: GAA

Linked Data

• dbSNP Id: rs757426536
• ExAC: 17:78081524 A / AGAG
• gnomAD v2: 17-78081524-A-AGAG
• gnomAD v4: 17-80107725-A-AGAG
• MyVariant Identifiers: chr17:g.78081524_78081525insGAG (hg19) ; chr17:g.80107725_80107726insGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107725_80107726insGAG , CM000679.2:g.80107725_80107726insGAG	GRCh38
NC_000017.10:g.78081524_78081525insGAG , CM000679.1:g.78081524_78081525insGAG	GRCh37
NC_000017.9:g.75696119_75696120insGAG	NCBI36
NG_009822.1:g.11170_11171insGAG , LRG_673:g.11170_11171insGAG

Transcript Alleles

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