Canonical Allele Identifier: CA2739265074

Gene: ENG

Linked Data

• ClinVar Variation Id: 2859548
• ClinVar RCV Id: RCV003759256

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824386_127824387del , CM000671.2:g.127824386_127824387del	GRCh38
NC_000009.11:g.130586665_130586666del , CM000671.1:g.130586665_130586666del	GRCh37
NC_000009.10:g.129626486_129626487del	NCBI36
NG_009551.1:g.35382_35383del , LRG_589:g.35382_35383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.505_506del	ENSP00000479015.1:p.Ser169ProfsTer?
ENST00000373203.9:c.1051_1052del MANE Select	ENSP00000362299.4:p.Ser351ProfsTer?
ENST00000344849.4:c.1051_1052del	ENSP00000341917.3:p.Ser351ProfsTer?
ENST00000373203.8:c.1051_1052del	ENSP00000362299.4:p.Ser351ProfsTer?
ENST00000480266.5:c.505_506del	ENSP00000479015.1:p.Ser169ProfsTer?
ENST00000486329.1:n.19_20del
NM_000118.3:c.1051_1052del , LRG_589t1:c.1051_1052del	NP_000109.1:p.Ser351ProfsTer?
NM_001114753.2:c.1051_1052del , LRG_589t2:c.1051_1052del	NP_001108225.1:p.Ser351ProfsTer?
NM_001278138.1:c.505_506del	NP_001265067.1:p.Ser169ProfsTer?
NM_001114753.3:c.1051_1052del MANE Select	NP_001108225.1:p.Ser351ProfsTer?
NM_001278138.2:c.505_506del	NP_001265067.1:p.Ser169ProfsTer?