Canonical Allele Identifier: CA2695227069

Gene: GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107616_80107625delinsTGCTGCCCTT , CM000679.2:g.80107616_80107625delinsTGCTGCCCTT	GRCh38
NC_000017.10:g.78081415_78081424delinsTGCTGCCCTT , CM000679.1:g.78081415_78081424delinsTGCTGCCCTT	GRCh37
NC_000017.9:g.75696010_75696019delinsTGCTGCCCTT	NCBI36
NG_009822.1:g.11061_11070delinsTGCTGCCCTT , LRG_673:g.11061_11070delinsTGCTGCCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.752_761delinsTGCTGCCCTT	ENSP00000460543.2:p.Ser251_Ser254delinsLeuLeuProLeu
ENST00000572080.2:c.752_761delinsTGCTGCCCTT	ENSP00000459972.2:p.Ser251_Ser254delinsLeuLeuProLeu
ENST00000577106.6:c.752_761delinsTGCTGCCCTT	ENSP00000458306.2:p.Ser251_Ser254delinsLeuLeuProLeu
ENST00000302262.8:c.752_761delinsTGCTGCCCTT MANE Select	ENSP00000305692.3:p.Ser251_Ser254delinsLeuLeuProLeu
ENST00000302262.7:c.752_761delinsTGCTGCCCTT	ENSP00000305692.3:p.Ser251_Ser254delinsLeuLeuProLeu
ENST00000390015.7:c.752_761delinsTGCTGCCCTT	ENSP00000374665.3:p.Ser251_Ser254delinsLeuLeuProLeu
ENST00000570803.5:c.752_761delinsTGCTGCCCTT	ENSP00000460543.1:p.Ser251_Ser254delinsLeuLeuProLeu
NM_000152.3:c.752_761delinsTGCTGCCCTT , LRG_673t1:c.752_761delinsTGCTGCCCTT	NP_000143.2:p.Ser251_Ser254delinsLeuLeuProLeu
NM_001079803.1:c.752_761delinsTGCTGCCCTT	NP_001073271.1:p.Ser251_Ser254delinsLeuLeuProLeu
NM_001079804.1:c.752_761delinsTGCTGCCCTT	NP_001073272.1:p.Ser251_Ser254delinsLeuLeuProLeu
XM_005257193.1:c.752_761delinsTGCTGCCCTT	XP_005257250.1:p.Ser251_Ser254delinsLeuLeuProLeu
XM_005257194.3:c.752_761delinsTGCTGCCCTT	XP_005257251.1:p.Ser251_Ser254delinsLeuLeuProLeu
NM_000152.4:c.752_761delinsTGCTGCCCTT	NP_000143.2:p.Ser251_Ser254delinsLeuLeuProLeu
NM_001079803.2:c.752_761delinsTGCTGCCCTT	NP_001073271.1:p.Ser251_Ser254delinsLeuLeuProLeu
NM_001079804.2:c.752_761delinsTGCTGCCCTT	NP_001073272.1:p.Ser251_Ser254delinsLeuLeuProLeu
XM_005257193.2:c.752_761delinsTGCTGCCCTT	XP_005257250.1:p.Ser251_Ser254delinsLeuLeuProLeu
XM_005257194.4:c.752_761delinsTGCTGCCCTT	XP_005257251.1:p.Ser251_Ser254delinsLeuLeuProLeu
NM_000152.5:c.752_761delinsTGCTGCCCTT MANE Select	NP_000143.2:p.Ser251_Ser254delinsLeuLeuProLeu
NM_001079803.3:c.752_761delinsTGCTGCCCTT	NP_001073271.1:p.Ser251_Ser254delinsLeuLeuProLeu
NM_001079804.3:c.752_761delinsTGCTGCCCTT	NP_001073272.1:p.Ser251_Ser254delinsLeuLeuProLeu