Canonical Allele Identifier: CA860194249

Gene: ENG

Linked Data

• dbSNP Id: rs1232966892
• gnomAD v3: 9-127820230-AC-A
• gnomAD v4: 9-127820230-AC-A
• MyVariant Identifiers: chr9:g.130582510del (hg19) ; chr9:g.127820231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820231del , CM000671.2:g.127820231del	GRCh38
NC_000009.11:g.130582510del , CM000671.1:g.130582510del	GRCh37
NC_000009.10:g.129622331del	NCBI36
NG_009551.1:g.39538del , LRG_589:g.39538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589-194del	ENSP00000479015.1:n.589-194del
ENST00000373203.9:c.1135-194del MANE Select	ENSP00000362299.4:n.1135-194del
ENST00000344849.4:c.1135-194del	ENSP00000341917.3:n.1135-194del
ENST00000373203.8:c.1135-194del	ENSP00000362299.4:n.1135-194del
ENST00000480266.5:c.589-194del	ENSP00000479015.1:n.589-194del
ENST00000486329.1:n.103-194del
NM_000118.3:c.1135-194del , LRG_589t1:c.1135-194del	NP_000109.1:n.1135-194del
NM_001114753.2:c.1135-194del , LRG_589t2:c.1135-194del	NP_001108225.1:n.1135-194del
NM_001278138.1:c.589-194del	NP_001265067.1:n.589-194del
NR_136302.1:n.1569-964del
NM_001114753.3:c.1135-194del MANE Select	NP_001108225.1:n.1135-194del
NM_001278138.2:c.589-194del	NP_001265067.1:n.589-194del