Canonical Allele Identifier: CA1879980294

Gene: ENG

Linked Data

• dbSNP Id: rs1830276898
• gnomAD v4: 9-127815283-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815284_127815286del , CM000671.2:g.127815284_127815286del	GRCh38
NC_000009.11:g.130577563_130577565del , CM000671.1:g.130577563_130577565del	GRCh37
NC_000009.10:g.129617384_129617386del	NCBI36
NG_009551.1:g.44483_44485del , LRG_589:g.44483_44485del
NG_023245.1:g.17410_17412del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*396_*398del	ENSP00000479015.1:n.*396_*398del
ENST00000373203.9:c.*396_*398del MANE Select	ENSP00000362299.4:n.*396_*398del
ENST00000344849.4:c.*631_*633del	ENSP00000341917.3:n.*631_*633del
ENST00000373203.8:c.*396_*398del	ENSP00000362299.4:n.*396_*398del
ENST00000480266.5:c.*396_*398del	ENSP00000479015.1:n.*396_*398del
NM_000118.3:c.*631_*633del , LRG_589t1:c.*631_*633del	NP_000109.1:n.*631_*633del
NM_001114753.2:c.*396_*398del , LRG_589t2:c.*396_*398del	NP_001108225.1:n.*396_*398del
NM_001278138.1:c.*396_*398del	NP_001265067.1:n.*396_*398del
NM_001114753.3:c.*396_*398del MANE Select	NP_001108225.1:n.*396_*398del
NM_001278138.2:c.*396_*398del	NP_001265067.1:n.*396_*398del