Canonical Allele Identifier: CA8815045

Gene: GAA

Linked Data

• dbSNP Id: rs762351035
• ExAC: 17:78081532 G / GGCA
• gnomAD v2: 17-78081532-G-GGCA
• gnomAD v3: 17-80107733-G-GGCA
• gnomAD v4: 17-80107733-G-GGCA
• MyVariant Identifiers: chr17:g.78081532_78081533insGCA (hg19) ; chr17:g.80107733_80107734insGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107734_80107735insCAG , CM000679.2:g.80107734_80107735insCAG	GRCh38
NC_000017.10:g.78081533_78081534insCAG , CM000679.1:g.78081533_78081534insCAG	GRCh37
NC_000017.9:g.75696128_75696129insCAG	NCBI36
NG_009822.1:g.11179_11180insCAG , LRG_673:g.11179_11180insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.858+12_858+13insCAG	ENSP00000460543.2:n.858+12_858+13insCAG
ENST00000572080.2:c.858+12_858+13insCAG	ENSP00000459972.2:n.858+12_858+13insCAG
ENST00000577106.6:c.858+12_858+13insCAG	ENSP00000458306.2:n.858+12_858+13insCAG
ENST00000302262.8:c.858+12_858+13insCAG MANE Select	ENSP00000305692.3:n.858+12_858+13insCAG
ENST00000302262.7:c.858+12_858+13insCAG	ENSP00000305692.3:n.858+12_858+13insCAG
ENST00000390015.7:c.858+12_858+13insCAG	ENSP00000374665.3:n.858+12_858+13insCAG
NM_000152.3:c.858+12_858+13insCAG , LRG_673t1:c.858+12_858+13insCAG	NP_000143.2:n.858+12_858+13insCAG
NM_001079803.1:c.858+12_858+13insCAG	NP_001073271.1:n.858+12_858+13insCAG
NM_001079804.1:c.858+12_858+13insCAG	NP_001073272.1:n.858+12_858+13insCAG
XM_005257193.1:c.858+12_858+13insCAG	XP_005257250.1:n.858+12_858+13insCAG
XM_005257194.3:c.858+12_858+13insCAG	XP_005257251.1:n.858+12_858+13insCAG
NM_000152.4:c.858+12_858+13insCAG	NP_000143.2:n.858+12_858+13insCAG
NM_001079803.2:c.858+12_858+13insCAG	NP_001073271.1:n.858+12_858+13insCAG
NM_001079804.2:c.858+12_858+13insCAG	NP_001073272.1:n.858+12_858+13insCAG
XM_005257193.2:c.858+12_858+13insCAG	XP_005257250.1:n.858+12_858+13insCAG
XM_005257194.4:c.858+12_858+13insCAG	XP_005257251.1:n.858+12_858+13insCAG
NM_000152.5:c.858+12_858+13insCAG MANE Select	NP_000143.2:n.858+12_858+13insCAG
NM_001079803.3:c.858+12_858+13insCAG	NP_001073271.1:n.858+12_858+13insCAG
NM_001079804.3:c.858+12_858+13insCAG	NP_001073272.1:n.858+12_858+13insCAG