Canonical Allele Identifier: CA590601569

Gene: ENG

Linked Data

• dbSNP Id: rs1184890176
• gnomAD v2: 9-130581734-C-CCTCA
• gnomAD v3: 9-127819455-C-CCTCA
• gnomAD v4: 9-127819455-C-CCTCA
• MyVariant Identifiers: chr9:g.130581734_130581735insCTCA (hg19) ; chr9:g.127819455_127819456insCTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819456_127819459dup , CM000671.2:g.127819456_127819459dup	GRCh38
NC_000009.11:g.130581735_130581738dup , CM000671.1:g.130581735_130581738dup	GRCh37
NC_000009.10:g.129621556_129621559dup	NCBI36
NG_009551.1:g.40310_40313dup , LRG_589:g.40310_40313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.765+163_765+166dup	ENSP00000479015.1:n.765+163_765+166dup
ENST00000373203.9:c.1311+163_1311+166dup MANE Select	ENSP00000362299.4:n.1311+163_1311+166dup
ENST00000344849.4:c.1311+163_1311+166dup	ENSP00000341917.3:n.1311+163_1311+166dup
ENST00000373203.8:c.1311+163_1311+166dup	ENSP00000362299.4:n.1311+163_1311+166dup
ENST00000480266.5:c.765+163_765+166dup	ENSP00000479015.1:n.765+163_765+166dup
ENST00000486329.1:n.442_445dup
NM_000118.3:c.1311+163_1311+166dup , LRG_589t1:c.1311+163_1311+166dup	NP_000109.1:n.1311+163_1311+166dup
NM_001114753.2:c.1311+163_1311+166dup , LRG_589t2:c.1311+163_1311+166dup	NP_001108225.1:n.1311+163_1311+166dup
NM_001278138.1:c.765+163_765+166dup	NP_001265067.1:n.765+163_765+166dup
NR_136302.1:n.1568+745_1568+748dup
NM_001114753.3:c.1311+163_1311+166dup MANE Select	NP_001108225.1:n.1311+163_1311+166dup
NM_001278138.2:c.765+163_765+166dup	NP_001265067.1:n.765+163_765+166dup