Canonical Allele Identifier: CA986710970

Gene: GAA

Linked Data

• dbSNP Id: rs2039375633
• gnomAD v3: 17-80117242-GCC-G
• gnomAD v4: 17-80117242-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117246_80117247del , CM000679.2:g.80117246_80117247del	GRCh38
NC_000017.10:g.78091045_78091046del , CM000679.1:g.78091045_78091046del	GRCh37
NC_000017.9:g.75705640_75705641del	NCBI36
NG_009822.1:g.20691_20692del , LRG_673:g.20691_20692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2331+137_2331+138del	ENSP00000460543.2:n.2331+137_2331+138del
ENST00000572080.2:c.*469+137_*469+138del	ENSP00000459972.2:n.*469+137_*469+138del
ENST00000577106.6:c.2331+137_2331+138del	ENSP00000458306.2:n.2331+137_2331+138del
ENST00000302262.8:c.2331+137_2331+138del MANE Select	ENSP00000305692.3:n.2331+137_2331+138del
ENST00000302262.7:c.2331+137_2331+138del	ENSP00000305692.3:n.2331+137_2331+138del
ENST00000390015.7:c.2331+137_2331+138del	ENSP00000374665.3:n.2331+137_2331+138del
ENST00000573556.1:n.284+137_284+138del
NM_000152.3:c.2331+137_2331+138del , LRG_673t1:c.2331+137_2331+138del	NP_000143.2:n.2331+137_2331+138del
NM_001079803.1:c.2331+137_2331+138del	NP_001073271.1:n.2331+137_2331+138del
NM_001079804.1:c.2331+137_2331+138del	NP_001073272.1:n.2331+137_2331+138del
XM_005257193.1:c.2331+137_2331+138del	XP_005257250.1:n.2331+137_2331+138del
XM_005257194.3:c.2331+137_2331+138del	XP_005257251.1:n.2331+137_2331+138del
NM_000152.4:c.2331+137_2331+138del	NP_000143.2:n.2331+137_2331+138del
NM_001079803.2:c.2331+137_2331+138del	NP_001073271.1:n.2331+137_2331+138del
NM_001079804.2:c.2331+137_2331+138del	NP_001073272.1:n.2331+137_2331+138del
XM_005257193.2:c.2331+137_2331+138del	XP_005257250.1:n.2331+137_2331+138del
XM_005257194.4:c.2331+137_2331+138del	XP_005257251.1:n.2331+137_2331+138del
NM_000152.5:c.2331+137_2331+138del MANE Select	NP_000143.2:n.2331+137_2331+138del
NM_001079803.3:c.2331+137_2331+138del	NP_001073271.1:n.2331+137_2331+138del
NM_001079804.3:c.2331+137_2331+138del	NP_001073272.1:n.2331+137_2331+138del