Canonical Allele Identifier: CA915947168

Gene: ENG

Linked Data

• ClinVar Variation Id: 726357
• ClinVar RCV Id: RCV000900563
• dbSNP Id: rs1588576650

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819668_127819675dup , CM000671.2:g.127819668_127819675dup	GRCh38
NC_000009.11:g.130581947_130581954dup , CM000671.1:g.130581947_130581954dup	GRCh37
NC_000009.10:g.129621768_129621775dup	NCBI36
NG_009551.1:g.40094_40101dup , LRG_589:g.40094_40101dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.727-15_727-8dup	ENSP00000479015.1:n.727-15_727-8dup
ENST00000373203.9:c.1273-15_1273-8dup MANE Select	ENSP00000362299.4:n.1273-15_1273-8dup
ENST00000344849.4:c.1273-15_1273-8dup	ENSP00000341917.3:n.1273-15_1273-8dup
ENST00000373203.8:c.1273-15_1273-8dup	ENSP00000362299.4:n.1273-15_1273-8dup
ENST00000480266.5:c.727-15_727-8dup	ENSP00000479015.1:n.727-15_727-8dup
ENST00000486329.1:n.241-15_241-8dup
NM_000118.3:c.1273-15_1273-8dup , LRG_589t1:c.1273-15_1273-8dup	NP_000109.1:n.1273-15_1273-8dup
NM_001114753.2:c.1273-15_1273-8dup , LRG_589t2:c.1273-15_1273-8dup	NP_001108225.1:n.1273-15_1273-8dup
NM_001278138.1:c.727-15_727-8dup	NP_001265067.1:n.727-15_727-8dup
NR_136302.1:n.1568+957_1568+964dup
NM_001114753.3:c.1273-15_1273-8dup MANE Select	NP_001108225.1:n.1273-15_1273-8dup
NM_001278138.2:c.727-15_727-8dup	NP_001265067.1:n.727-15_727-8dup