Canonical Allele Identifier: CA2720709717
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs2131871085

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815852del , CM000671.2:g.127815852del GRCh38
NC_000009.11:g.130578131del , CM000671.1:g.130578131del GRCh37
NC_000009.10:g.129617952del NCBI36
NG_009551.1:g.43917del , LRG_589:g.43917del
NG_023245.1:g.17978del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1307-46del ENSP00000479015.1:n.1307-46del
ENST00000373203.9:c.1853-46del MANE Select ENSP00000362299.4:n.1853-46del
ENST00000344849.4:c.*65del ENSP00000341917.3:n.*65del
ENST00000373203.8:c.1853-46del ENSP00000362299.4:n.1853-46del
ENST00000480266.5:c.1307-46del ENSP00000479015.1:n.1307-46del
NM_000118.3:c.*65del , LRG_589t1:c.*65del NP_000109.1:n.*65del
NM_001114753.2:c.1853-46del , LRG_589t2:c.1853-46del NP_001108225.1:n.1853-46del
NM_001278138.1:c.1307-46del NP_001265067.1:n.1307-46del
NM_001114753.3:c.1853-46del MANE Select NP_001108225.1:n.1853-46del
NM_001278138.2:c.1307-46del NP_001265067.1:n.1307-46del