Canonical Allele Identifier: CA2691806707

Gene: ENG

Linked Data

• gnomAD v4: 9-127820129-TCCCAAGTCACAGCCATTCCCCTGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820131_127820155del , CM000671.2:g.127820131_127820155del	GRCh38
NC_000009.11:g.130582410_130582434del , CM000671.1:g.130582410_130582434del	GRCh37
NC_000009.10:g.129622231_129622255del	NCBI36
NG_009551.1:g.39615_39639del , LRG_589:g.39615_39639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-117_589-93del	ENSP00000479015.1:n.589-117_589-93del
ENST00000373203.9:c.1135-117_1135-93del MANE Select	ENSP00000362299.4:n.1135-117_1135-93del
ENST00000344849.4:c.1135-117_1135-93del	ENSP00000341917.3:n.1135-117_1135-93del
ENST00000373203.8:c.1135-117_1135-93del	ENSP00000362299.4:n.1135-117_1135-93del
ENST00000480266.5:c.589-117_589-93del	ENSP00000479015.1:n.589-117_589-93del
ENST00000486329.1:n.103-117_103-93del
NM_000118.3:c.1135-117_1135-93del , LRG_589t1:c.1135-117_1135-93del	NP_000109.1:n.1135-117_1135-93del
NM_001114753.2:c.1135-117_1135-93del , LRG_589t2:c.1135-117_1135-93del	NP_001108225.1:n.1135-117_1135-93del
NM_001278138.1:c.589-117_589-93del	NP_001265067.1:n.589-117_589-93del
NR_136302.1:n.1569-1064_1569-1040del
NM_001114753.3:c.1135-117_1135-93del MANE Select	NP_001108225.1:n.1135-117_1135-93del
NM_001278138.2:c.589-117_589-93del	NP_001265067.1:n.589-117_589-93del