Canonical Allele Identifier: CA2580079598

Gene: ENG

Linked Data

• ClinVar Variation Id: 1751044
• ClinVar RCV Id: RCV002358031

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819953_127819958del , CM000671.2:g.127819953_127819958del	GRCh38
NC_000009.11:g.130582232_130582237del , CM000671.1:g.130582232_130582237del	GRCh37
NC_000009.10:g.129622053_129622058del	NCBI36
NG_009551.1:g.39811_39816del , LRG_589:g.39811_39816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.668_673del	ENSP00000479015.1:p.Leu223_Ser225delinsCys
ENST00000373203.9:c.1214_1219del MANE Select	ENSP00000362299.4:p.Leu405_Ser407delinsCys
ENST00000344849.4:c.1214_1219del	ENSP00000341917.3:p.Leu405_Ser407delinsCys
ENST00000373203.8:c.1214_1219del	ENSP00000362299.4:p.Leu405_Ser407delinsCys
ENST00000480266.5:c.668_673del	ENSP00000479015.1:p.Leu223_Ser225delinsCys
ENST00000486329.1:n.182_187del
NM_000118.3:c.1214_1219del , LRG_589t1:c.1214_1219del	NP_000109.1:p.Leu405_Ser407delinsCys
NM_001114753.2:c.1214_1219del , LRG_589t2:c.1214_1219del	NP_001108225.1:p.Leu405_Ser407delinsCys
NM_001278138.1:c.668_673del	NP_001265067.1:p.Leu223_Ser225delinsCys
NR_136302.1:n.1569-1242_1569-1237del
NM_001114753.3:c.1214_1219del MANE Select	NP_001108225.1:p.Leu405_Ser407delinsCys
NM_001278138.2:c.668_673del	NP_001265067.1:p.Leu223_Ser225delinsCys