Canonical Allele Identifier: CA986708772

Gene: GAA

Linked Data

• gnomAD v3: 17-80113289-ACTCCTCCC-A
• gnomAD v4: 17-80113289-ACTCCTCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113291_80113298del , CM000679.2:g.80113291_80113298del	GRCh38
NC_000017.10:g.78087090_78087097del , CM000679.1:g.78087090_78087097del	GRCh37
NC_000017.9:g.75701685_75701692del	NCBI36
NG_009822.1:g.16736_16743del , LRG_673:g.16736_16743del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2114_2121del	ENSP00000460543.2:p.Leu705ProfsTer29
ENST00000572080.2:c.*252_*259del	ENSP00000459972.2:n.*252_*259del
ENST00000577106.6:c.2114_2121del	ENSP00000458306.2:p.Leu705ProfsTer29
ENST00000302262.8:c.2114_2121del MANE Select	ENSP00000305692.3:p.Leu705ProfsTer29
ENST00000302262.7:c.2114_2121del	ENSP00000305692.3:p.Leu705ProfsTer29
ENST00000390015.7:c.2114_2121del	ENSP00000374665.3:p.Leu705ProfsTer29
ENST00000572080.1:c.533_540del
NM_000152.3:c.2114_2121del , LRG_673t1:c.2114_2121del	NP_000143.2:p.Leu705ProfsTer29
NM_001079803.1:c.2114_2121del	NP_001073271.1:p.Leu705ProfsTer29
NM_001079804.1:c.2114_2121del	NP_001073272.1:p.Leu705ProfsTer29
XM_005257193.1:c.2114_2121del	XP_005257250.1:p.Leu705ProfsTer29
XM_005257194.3:c.2114_2121del	XP_005257251.1:p.Leu705ProfsTer29
NM_000152.4:c.2114_2121del	NP_000143.2:p.Leu705ProfsTer29
NM_001079803.2:c.2114_2121del	NP_001073271.1:p.Leu705ProfsTer29
NM_001079804.2:c.2114_2121del	NP_001073272.1:p.Leu705ProfsTer29
XM_005257193.2:c.2114_2121del	XP_005257250.1:p.Leu705ProfsTer29
XM_005257194.4:c.2114_2121del	XP_005257251.1:p.Leu705ProfsTer29
NM_000152.5:c.2114_2121del MANE Select	NP_000143.2:p.Leu705ProfsTer29
NM_001079803.3:c.2114_2121del	NP_001073271.1:p.Leu705ProfsTer29
NM_001079804.3:c.2114_2121del	NP_001073272.1:p.Leu705ProfsTer29