Canonical Allele Identifier: CA2691806400

Gene: ENG

Linked Data

• gnomAD v4: 9-127819435-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819440_127819441del , CM000671.2:g.127819440_127819441del	GRCh38
NC_000009.11:g.130581719_130581720del , CM000671.1:g.130581719_130581720del	GRCh37
NC_000009.10:g.129621540_129621541del	NCBI36
NG_009551.1:g.40332_40333del , LRG_589:g.40332_40333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.765+185_765+186del	ENSP00000479015.1:n.765+185_765+186del
ENST00000373203.9:c.1311+185_1311+186del MANE Select	ENSP00000362299.4:n.1311+185_1311+186del
ENST00000344849.4:c.1311+185_1311+186del	ENSP00000341917.3:n.1311+185_1311+186del
ENST00000373203.8:c.1311+185_1311+186del	ENSP00000362299.4:n.1311+185_1311+186del
ENST00000480266.5:c.765+185_765+186del	ENSP00000479015.1:n.765+185_765+186del
ENST00000486329.1:n.464_465del
NM_000118.3:c.1311+185_1311+186del , LRG_589t1:c.1311+185_1311+186del	NP_000109.1:n.1311+185_1311+186del
NM_001114753.2:c.1311+185_1311+186del , LRG_589t2:c.1311+185_1311+186del	NP_001108225.1:n.1311+185_1311+186del
NM_001278138.1:c.765+185_765+186del	NP_001265067.1:n.765+185_765+186del
NR_136302.1:n.1568+729_1568+730del
NM_001114753.3:c.1311+185_1311+186del MANE Select	NP_001108225.1:n.1311+185_1311+186del
NM_001278138.2:c.765+185_765+186del	NP_001265067.1:n.765+185_765+186del