Canonical Allele Identifier: CA2580079645

Gene: ENG

Linked Data

• ClinVar Variation Id: 2032214
• ClinVar RCV Id: RCV002876820

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818180_127818189del , CM000671.2:g.127818180_127818189del	GRCh38
NC_000009.11:g.130580459_130580468del , CM000671.1:g.130580459_130580468del	GRCh37
NC_000009.10:g.129620280_129620289del	NCBI36
NG_009551.1:g.41581_41590del , LRG_589:g.41581_41590del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1072_1081del	ENSP00000479015.1:p.Pro358LysfsTer9
ENST00000373203.9:c.1618_1627del MANE Select	ENSP00000362299.4:p.Pro540LysfsTer9
ENST00000344849.4:c.1618_1627del	ENSP00000341917.3:p.Pro540LysfsTer9
ENST00000373203.8:c.1618_1627del	ENSP00000362299.4:p.Pro540LysfsTer9
ENST00000480266.5:c.1072_1081del	ENSP00000479015.1:p.Pro358LysfsTer9
NM_000118.3:c.1618_1627del , LRG_589t1:c.1618_1627del	NP_000109.1:p.Pro540LysfsTer9
NM_001114753.2:c.1618_1627del , LRG_589t2:c.1618_1627del	NP_001108225.1:p.Pro540LysfsTer9
NM_001278138.1:c.1072_1081del	NP_001265067.1:p.Pro358LysfsTer9
NR_136302.1:n.1378-131_1378-122del
NM_001114753.3:c.1618_1627del MANE Select	NP_001108225.1:p.Pro540LysfsTer9
NM_001278138.2:c.1072_1081del	NP_001265067.1:p.Pro358LysfsTer9