Canonical Allele Identifier: CA2580079576

Gene: ENG

Linked Data

• ClinVar Variation Id: 1733091
• ClinVar RCV Id: RCV002455204 ; RCV003099610

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829685dup , CM000671.2:g.127829685dup	GRCh38
NC_000009.11:g.130591964dup , CM000671.1:g.130591964dup	GRCh37
NC_000009.10:g.129631785dup	NCBI36
NG_009551.1:g.30084dup , LRG_589:g.30084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-187+2dup	ENSP00000479015.1:n.-187+2dup
ENST00000373203.9:c.360+2dup MANE Select	ENSP00000362299.4:n.360+2dup
ENST00000344849.4:c.360+2dup	ENSP00000341917.3:n.360+2dup
ENST00000373203.8:c.360+2dup	ENSP00000362299.4:n.360+2dup
ENST00000462196.1:n.118+2dup
ENST00000480266.5:c.-187+2dup	ENSP00000479015.1:n.-187+2dup
NM_000118.3:c.360+2dup , LRG_589t1:c.360+2dup	NP_000109.1:n.360+2dup
NM_001114753.2:c.360+2dup , LRG_589t2:c.360+2dup	NP_001108225.1:n.360+2dup
NM_001278138.1:c.-187+2dup	NP_001265067.1:n.-187+2dup
XR_001746952.2:n.83-2713dup
NM_001114753.3:c.360+2dup MANE Select	NP_001108225.1:n.360+2dup
NM_001278138.2:c.-187+2dup	NP_001265067.1:n.-187+2dup