Canonical Allele Identifier: CA1139659925

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817193del , CM000671.2:g.127817193del	GRCh38
NC_000009.11:g.130579472del , CM000671.1:g.130579472del	GRCh37
NC_000009.10:g.129619293del	NCBI36
NG_009551.1:g.42577del , LRG_589:g.42577del

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1698del MANE Select	NP_001108225.1:p.Thr567LeufsTer6
ENST00000373203.9:c.1698del MANE Select	ENSP00000362299.4:p.Thr567LeufsTer6
NM_000118.3:c.1698del , LRG_589t1:c.1698del	NP_000109.1:p.Thr567LeufsTer6
NM_001114753.2:c.1698del , LRG_589t2:c.1698del	NP_001108225.1:p.Thr567LeufsTer6
NM_001278138.1:c.1152del	NP_001265067.1:p.Thr385LeufsTer6
NM_001278138.2:c.1152del	NP_001265067.1:p.Thr385LeufsTer6
NR_136302.1:n.1128del
ENST00000344849.4:c.1698del	ENSP00000341917.3:p.Thr567LeufsTer6
ENST00000373203.8:c.1698del	ENSP00000362299.4:p.Thr567LeufsTer6
ENST00000480266.5:c.1152del	ENSP00000479015.1:p.Thr385LeufsTer6
ENST00000480266.6:c.1152del	ENSP00000479015.1:p.Thr385LeufsTer6