Canonical Allele Identifier: CA2573143970

Gene: ENG

Linked Data

• ClinVar Variation Id: 1475982
• ClinVar RCV Id: RCV001977708
• dbSNP Id: rs2131887067

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824910_127824921del , CM000671.2:g.127824910_127824921del	GRCh38
NC_000009.11:g.130587189_130587200del , CM000671.1:g.130587189_130587200del	GRCh37
NC_000009.10:g.129627010_129627021del	NCBI36
NG_009551.1:g.34850_34861del , LRG_589:g.34850_34861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.326_337del	ENSP00000479015.1:p.Lys109_Asp112del
ENST00000373203.9:c.872_883del MANE Select	ENSP00000362299.4:p.Lys291_Asp294del
ENST00000344849.4:c.872_883del	ENSP00000341917.3:p.Lys291_Asp294del
ENST00000373203.8:c.872_883del	ENSP00000362299.4:p.Lys291_Asp294del
ENST00000480266.5:c.326_337del	ENSP00000479015.1:p.Lys109_Asp112del
NM_000118.3:c.872_883del , LRG_589t1:c.872_883del	NP_000109.1:p.Lys291_Asp294del
NM_001114753.2:c.872_883del , LRG_589t2:c.872_883del	NP_001108225.1:p.Lys291_Asp294del
NM_001278138.1:c.326_337del	NP_001265067.1:p.Lys109_Asp112del
NM_001114753.3:c.872_883del MANE Select	NP_001108225.1:p.Lys291_Asp294del
NM_001278138.2:c.326_337del	NP_001265067.1:p.Lys109_Asp112del