Canonical Allele Identifier: CA2840533199

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815771_127815772del , CM000671.2:g.127815771_127815772del	GRCh38
NC_000009.11:g.130578050_130578051del , CM000671.1:g.130578050_130578051del	GRCh37
NC_000009.10:g.129617871_129617872del	NCBI36
NG_009551.1:g.43997_43998del , LRG_589:g.43997_43998del
NG_023245.1:g.17897_17898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1341_1342del	ENSP00000479015.1:p.Ala448CysfsTer?
ENST00000373203.9:c.1887_1888del MANE Select	ENSP00000362299.4:p.Ala630CysfsTer?
ENST00000344849.4:c.*145_*146del	ENSP00000341917.3:n.*145_*146del
ENST00000373203.8:c.1887_1888del	ENSP00000362299.4:p.Ala630CysfsTer?
ENST00000480266.5:c.1341_1342del	ENSP00000479015.1:p.Ala448CysfsTer?
NM_000118.3:c.*145_*146del , LRG_589t1:c.*145_*146del	NP_000109.1:n.*145_*146del
NM_001114753.2:c.1887_1888del , LRG_589t2:c.1887_1888del	NP_001108225.1:p.Ala630CysfsTer?
NM_001278138.1:c.1341_1342del	NP_001265067.1:p.Ala448CysfsTer?
NM_001114753.3:c.1887_1888del MANE Select	NP_001108225.1:p.Ala630CysfsTer?
NM_001278138.2:c.1341_1342del	NP_001265067.1:p.Ala448CysfsTer?