Canonical Allele Identifier: CA2839075526

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104935_80104936insCCCTGCTT , CM000679.2:g.80104935_80104936insCCCTGCTT	GRCh38
NC_000017.10:g.78078734_78078735insCCCTGCTT , CM000679.1:g.78078734_78078735insCCCTGCTT	GRCh37
NC_000017.9:g.75693329_75693330insCCCTGCTT	NCBI36
NG_009822.1:g.8380_8381insCCCTGCTT , LRG_673:g.8380_8381insCCCTGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.349_350insCCCTGCTT	ENSP00000460543.2:p.Leu117ProfsTer28
ENST00000572080.2:c.349_350insCCCTGCTT	ENSP00000459972.2:p.Leu117ProfsTer28
ENST00000577106.6:c.349_350insCCCTGCTT	ENSP00000458306.2:p.Leu117ProfsTer28
ENST00000302262.8:c.349_350insCCCTGCTT MANE Select	ENSP00000305692.3:p.Leu117ProfsTer28
ENST00000302262.7:c.349_350insCCCTGCTT	ENSP00000305692.3:p.Leu117ProfsTer28
ENST00000390015.7:c.349_350insCCCTGCTT	ENSP00000374665.3:p.Leu117ProfsTer28
ENST00000570803.5:c.349_350insCCCTGCTT	ENSP00000460543.1:p.Leu117ProfsTer28
ENST00000577106.5:c.349_350insCCCTGCTT	ENSP00000458306.1:p.Leu117ProfsTer28
NM_000152.3:c.349_350insCCCTGCTT , LRG_673t1:c.349_350insCCCTGCTT	NP_000143.2:p.Leu117ProfsTer28
NM_001079803.1:c.349_350insCCCTGCTT	NP_001073271.1:p.Leu117ProfsTer28
NM_001079804.1:c.349_350insCCCTGCTT	NP_001073272.1:p.Leu117ProfsTer28
XM_005257193.1:c.349_350insCCCTGCTT	XP_005257250.1:p.Leu117ProfsTer28
XM_005257194.3:c.349_350insCCCTGCTT	XP_005257251.1:p.Leu117ProfsTer28
NM_000152.4:c.349_350insCCCTGCTT	NP_000143.2:p.Leu117ProfsTer28
NM_001079803.2:c.349_350insCCCTGCTT	NP_001073271.1:p.Leu117ProfsTer28
NM_001079804.2:c.349_350insCCCTGCTT	NP_001073272.1:p.Leu117ProfsTer28
XM_005257193.2:c.349_350insCCCTGCTT	XP_005257250.1:p.Leu117ProfsTer28
XM_005257194.4:c.349_350insCCCTGCTT	XP_005257251.1:p.Leu117ProfsTer28
NM_000152.5:c.349_350insCCCTGCTT MANE Select	NP_000143.2:p.Leu117ProfsTer28
NM_001079803.3:c.349_350insCCCTGCTT	NP_001073271.1:p.Leu117ProfsTer28
NM_001079804.3:c.349_350insCCCTGCTT	NP_001073272.1:p.Leu117ProfsTer28