Canonical Allele Identifier: CA1879980277

Gene: ENG

Linked Data

• dbSNP Id: rs1217672594
• gnomAD v4: 9-127815278-CCTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815285_127815289del , CM000671.2:g.127815285_127815289del	GRCh38
NC_000009.11:g.130577564_130577568del , CM000671.1:g.130577564_130577568del	GRCh37
NC_000009.10:g.129617385_129617389del	NCBI36
NG_009551.1:g.44486_44490del , LRG_589:g.44486_44490del
NG_023245.1:g.17411_17415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*399_*403del	ENSP00000479015.1:n.*399_*403del
ENST00000373203.9:c.*399_*403del MANE Select	ENSP00000362299.4:n.*399_*403del
ENST00000344849.4:c.*634_*638del	ENSP00000341917.3:n.*634_*638del
ENST00000373203.8:c.*399_*403del	ENSP00000362299.4:n.*399_*403del
ENST00000480266.5:c.*399_*403del	ENSP00000479015.1:n.*399_*403del
NM_000118.3:c.*634_*638del , LRG_589t1:c.*634_*638del	NP_000109.1:n.*634_*638del
NM_001114753.2:c.*399_*403del , LRG_589t2:c.*399_*403del	NP_001108225.1:n.*399_*403del
NM_001278138.1:c.*399_*403del	NP_001265067.1:n.*399_*403del
NM_001114753.3:c.*399_*403del MANE Select	NP_001108225.1:n.*399_*403del
NM_001278138.2:c.*399_*403del	NP_001265067.1:n.*399_*403del