Canonical Allele Identifier: CA2695199410

Gene: ENG

Linked Data

• ClinVar Variation Id: 2662296
• ClinVar RCV Id: RCV003443791

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815923_127815924del , CM000671.2:g.127815923_127815924del	GRCh38
NC_000009.11:g.130578202_130578203del , CM000671.1:g.130578202_130578203del	GRCh37
NC_000009.10:g.129618023_129618024del	NCBI36
NG_009551.1:g.43847_43848del , LRG_589:g.43847_43848del
NG_023245.1:g.18049_18050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1306+21_1306+22del	ENSP00000479015.1:n.1306+21_1306+22del
ENST00000373203.9:c.1852+21_1852+22del MANE Select	ENSP00000362299.4:n.1852+21_1852+22del
ENST00000344849.4:c.1873_1874del	ENSP00000341917.3:p.Gln625ValfsTer?
ENST00000373203.8:c.1852+21_1852+22del	ENSP00000362299.4:n.1852+21_1852+22del
ENST00000480266.5:c.1306+21_1306+22del	ENSP00000479015.1:n.1306+21_1306+22del
NM_000118.3:c.1873_1874del , LRG_589t1:c.1873_1874del	NP_000109.1:p.Gln625ValfsTer?
NM_001114753.2:c.1852+21_1852+22del , LRG_589t2:c.1852+21_1852+22del	NP_001108225.1:n.1852+21_1852+22del
NM_001278138.1:c.1306+21_1306+22del	NP_001265067.1:n.1306+21_1306+22del
NM_001114753.3:c.1852+21_1852+22del MANE Select	NP_001108225.1:n.1852+21_1852+22del
NM_001278138.2:c.1306+21_1306+22del	NP_001265067.1:n.1306+21_1306+22del