Canonical Allele Identifier: CA2695211243

Gene: ENG

Linked Data

• ClinVar Variation Id: 2683658
• ClinVar RCV Id: RCV003480478 ; RCV003594703

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824438_127824442del , CM000671.2:g.127824438_127824442del	GRCh38
NC_000009.11:g.130586717_130586721del , CM000671.1:g.130586717_130586721del	GRCh37
NC_000009.10:g.129626538_129626542del	NCBI36
NG_009551.1:g.35328_35332del , LRG_589:g.35328_35332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.451_455del	ENSP00000479015.1:p.Arg151AlafsTer17
ENST00000373203.9:c.997_1001del MANE Select	ENSP00000362299.4:p.Arg333AlafsTer17
ENST00000344849.4:c.997_1001del	ENSP00000341917.3:p.Arg333AlafsTer17
ENST00000373203.8:c.997_1001del	ENSP00000362299.4:p.Arg333AlafsTer17
ENST00000480266.5:c.451_455del	ENSP00000479015.1:p.Arg151AlafsTer17
NM_000118.3:c.997_1001del , LRG_589t1:c.997_1001del	NP_000109.1:p.Arg333AlafsTer17
NM_001114753.2:c.997_1001del , LRG_589t2:c.997_1001del	NP_001108225.1:p.Arg333AlafsTer17
NM_001278138.1:c.451_455del	NP_001265067.1:p.Arg151AlafsTer17
NM_001114753.3:c.997_1001del MANE Select	NP_001108225.1:p.Arg333AlafsTer17
NM_001278138.2:c.451_455del	NP_001265067.1:p.Arg151AlafsTer17