Canonical Allele Identifier: CA2691809395

Gene: ENG

Linked Data

• gnomAD v4: 9-127825588-T-TGGGACTGGGGTGGGGCTTTATAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825594_127825616dup , CM000671.2:g.127825594_127825616dup	GRCh38
NC_000009.11:g.130587873_130587895dup , CM000671.1:g.130587873_130587895dup	GRCh37
NC_000009.10:g.129627694_129627716dup	NCBI36
NG_009551.1:g.34158_34180dup , LRG_589:g.34158_34180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.143+84_143+106dup	ENSP00000479015.1:n.143+84_143+106dup
ENST00000373203.9:c.689+84_689+106dup MANE Select	ENSP00000362299.4:n.689+84_689+106dup
ENST00000344849.4:c.689+84_689+106dup	ENSP00000341917.3:n.689+84_689+106dup
ENST00000373203.8:c.689+84_689+106dup	ENSP00000362299.4:n.689+84_689+106dup
ENST00000480266.5:c.143+84_143+106dup	ENSP00000479015.1:n.143+84_143+106dup
NM_000118.3:c.689+84_689+106dup , LRG_589t1:c.689+84_689+106dup	NP_000109.1:n.689+84_689+106dup
NM_001114753.2:c.689+84_689+106dup , LRG_589t2:c.689+84_689+106dup	NP_001108225.1:n.689+84_689+106dup
NM_001278138.1:c.143+84_143+106dup	NP_001265067.1:n.143+84_143+106dup
XR_001746952.2:n.82+136_82+158dup
NM_001114753.3:c.689+84_689+106dup MANE Select	NP_001108225.1:n.689+84_689+106dup
NM_001278138.2:c.143+84_143+106dup	NP_001265067.1:n.143+84_143+106dup