Canonical Allele Identifier: CA2691805309

Gene: ENG

Linked Data

• gnomAD v4: 9-127815282-T-TTCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815284_127815287dup , CM000671.2:g.127815284_127815287dup	GRCh38
NC_000009.11:g.130577563_130577566dup , CM000671.1:g.130577563_130577566dup	GRCh37
NC_000009.10:g.129617384_129617387dup	NCBI36
NG_009551.1:g.44483_44486dup , LRG_589:g.44483_44486dup
NG_023245.1:g.17410_17413dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*396_*399dup	ENSP00000479015.1:n.*396_*399dup
ENST00000373203.9:c.*396_*399dup MANE Select	ENSP00000362299.4:n.*396_*399dup
ENST00000344849.4:c.*631_*634dup	ENSP00000341917.3:n.*631_*634dup
ENST00000373203.8:c.*396_*399dup	ENSP00000362299.4:n.*396_*399dup
ENST00000480266.5:c.*396_*399dup	ENSP00000479015.1:n.*396_*399dup
NM_000118.3:c.*631_*634dup , LRG_589t1:c.*631_*634dup	NP_000109.1:n.*631_*634dup
NM_001114753.2:c.*396_*399dup , LRG_589t2:c.*396_*399dup	NP_001108225.1:n.*396_*399dup
NM_001278138.1:c.*396_*399dup	NP_001265067.1:n.*396_*399dup
NM_001114753.3:c.*396_*399dup MANE Select	NP_001108225.1:n.*396_*399dup
NM_001278138.2:c.*396_*399dup	NP_001265067.1:n.*396_*399dup