Canonical Allele Identifier: CA860200189

Gene: ENG

Linked Data

• dbSNP Id: rs1268522945
• gnomAD v3: 9-127829828-C-CT
• gnomAD v4: 9-127829828-C-CT
• MyVariant Identifiers: chr9:g.130592107_130592108insT (hg19) ; chr9:g.127829828_127829829insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829829dup , CM000671.2:g.127829829dup	GRCh38
NC_000009.11:g.130592108dup , CM000671.1:g.130592108dup	GRCh37
NC_000009.10:g.129631929dup	NCBI36
NG_009551.1:g.29940dup , LRG_589:g.29940dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-327-2dup	ENSP00000479015.1:n.-327-2dup
ENST00000373203.9:c.220-2dup MANE Select	ENSP00000362299.4:n.220-2dup
ENST00000344849.4:c.220-2dup	ENSP00000341917.3:n.220-2dup
ENST00000373203.8:c.220-2dup	ENSP00000362299.4:n.220-2dup
ENST00000480266.5:c.-327-2dup	ENSP00000479015.1:n.-327-2dup
NM_000118.3:c.220-2dup , LRG_589t1:c.220-2dup	NP_000109.1:n.220-2dup
NM_001114753.2:c.220-2dup , LRG_589t2:c.220-2dup	NP_001108225.1:n.220-2dup
NM_001278138.1:c.-327-2dup	NP_001265067.1:n.-327-2dup
XR_001746952.2:n.83-2569dup
NM_001114753.3:c.220-2dup MANE Select	NP_001108225.1:n.220-2dup
NM_001278138.2:c.-327-2dup	NP_001265067.1:n.-327-2dup