Canonical Allele Identifier: CA2695211278
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819966del , CM000671.2:g.127819966del GRCh38
NC_000009.11:g.130582245del , CM000671.1:g.130582245del GRCh37
NC_000009.10:g.129622066del NCBI36
NG_009551.1:g.39803del , LRG_589:g.39803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.660del ENSP00000479015.1:p.Lys220AsnfsTer19
ENST00000373203.9:c.1206del MANE Select ENSP00000362299.4:p.Lys402AsnfsTer19
ENST00000344849.4:c.1206del ENSP00000341917.3:p.Lys402AsnfsTer19
ENST00000373203.8:c.1206del ENSP00000362299.4:p.Lys402AsnfsTer19
ENST00000480266.5:c.660del ENSP00000479015.1:p.Lys220AsnfsTer19
ENST00000486329.1:n.174del
NM_000118.3:c.1206del , LRG_589t1:c.1206del NP_000109.1:p.Lys402AsnfsTer19
NM_001114753.2:c.1206del , LRG_589t2:c.1206del NP_001108225.1:p.Lys402AsnfsTer19
NM_001278138.1:c.660del NP_001265067.1:p.Lys220AsnfsTer19
NR_136302.1:n.1569-1229del
NM_001114753.3:c.1206del MANE Select NP_001108225.1:p.Lys402AsnfsTer19
NM_001278138.2:c.660del NP_001265067.1:p.Lys220AsnfsTer19