Canonical Allele Identifier: CA916081558

Gene: ENG

Linked Data

• ClinVar Variation Id: 848379
• ClinVar RCV Id: RCV001052121
• dbSNP Id: rs1830714023

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829722_127829730del , CM000671.2:g.127829722_127829730del	GRCh38
NC_000009.11:g.130592001_130592009del , CM000671.1:g.130592001_130592009del	GRCh37
NC_000009.10:g.129631822_129631830del	NCBI36
NG_009551.1:g.30042_30050del , LRG_589:g.30042_30050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-227_-219del	ENSP00000479015.1:n.-227_-219del
ENST00000373203.9:c.320_328del MANE Select	ENSP00000362299.4:p.Leu107_Leu109del
ENST00000344849.4:c.320_328del	ENSP00000341917.3:p.Leu107_Leu109del
ENST00000373203.8:c.320_328del	ENSP00000362299.4:p.Leu107_Leu109del
ENST00000462196.1:n.78_86del
ENST00000480266.5:c.-227_-219del	ENSP00000479015.1:n.-227_-219del
NM_000118.3:c.320_328del , LRG_589t1:c.320_328del	NP_000109.1:p.Leu107_Leu109del
NM_001114753.2:c.320_328del , LRG_589t2:c.320_328del	NP_001108225.1:p.Leu107_Leu109del
NM_001278138.1:c.-227_-219del	NP_001265067.1:n.-227_-219del
XR_001746952.2:n.83-2676_83-2668del
NM_001114753.3:c.320_328del MANE Select	NP_001108225.1:p.Leu107_Leu109del
NM_001278138.2:c.-227_-219del	NP_001265067.1:n.-227_-219del