Canonical Allele Identifier: CA1129276381

Gene: ENG

Linked Data

• dbSNP Id: rs1830438586
• gnomAD v3: 9-127820226-TCTCA-T
• gnomAD v4: 9-127820226-TCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820230_127820233del , CM000671.2:g.127820230_127820233del	GRCh38
NC_000009.11:g.130582509_130582512del , CM000671.1:g.130582509_130582512del	GRCh37
NC_000009.10:g.129622330_129622333del	NCBI36
NG_009551.1:g.39539_39542del , LRG_589:g.39539_39542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-193_589-190del	ENSP00000479015.1:n.589-193_589-190del
ENST00000373203.9:c.1135-193_1135-190del MANE Select	ENSP00000362299.4:n.1135-193_1135-190del
ENST00000344849.4:c.1135-193_1135-190del	ENSP00000341917.3:n.1135-193_1135-190del
ENST00000373203.8:c.1135-193_1135-190del	ENSP00000362299.4:n.1135-193_1135-190del
ENST00000480266.5:c.589-193_589-190del	ENSP00000479015.1:n.589-193_589-190del
ENST00000486329.1:n.103-193_103-190del
NM_000118.3:c.1135-193_1135-190del , LRG_589t1:c.1135-193_1135-190del	NP_000109.1:n.1135-193_1135-190del
NM_001114753.2:c.1135-193_1135-190del , LRG_589t2:c.1135-193_1135-190del	NP_001108225.1:n.1135-193_1135-190del
NM_001278138.1:c.589-193_589-190del	NP_001265067.1:n.589-193_589-190del
NR_136302.1:n.1569-965_1569-962del
NM_001114753.3:c.1135-193_1135-190del MANE Select	NP_001108225.1:n.1135-193_1135-190del
NM_001278138.2:c.589-193_589-190del	NP_001265067.1:n.589-193_589-190del