Canonical Allele Identifier: CA1139659928

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818131del , CM000671.2:g.127818131del	GRCh38
NC_000009.11:g.130580410del , CM000671.1:g.130580410del	GRCh37
NC_000009.10:g.129620231del	NCBI36
NG_009551.1:g.41638del , LRG_589:g.41638del

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1675del MANE Select	NP_001108225.1:p.Ser559LeufsTer14
ENST00000373203.9:c.1675del MANE Select	ENSP00000362299.4:p.Ser559LeufsTer14
NM_000118.3:c.1675del , LRG_589t1:c.1675del	NP_000109.1:p.Ser559LeufsTer14
NM_001114753.2:c.1675del , LRG_589t2:c.1675del	NP_001108225.1:p.Ser559LeufsTer14
NM_001278138.1:c.1129del	NP_001265067.1:p.Ser377LeufsTer14
NM_001278138.2:c.1129del	NP_001265067.1:p.Ser377LeufsTer14
NR_136302.1:n.1378-180del
ENST00000344849.4:c.1675del	ENSP00000341917.3:p.Ser559LeufsTer14
ENST00000373203.8:c.1675del	ENSP00000362299.4:p.Ser559LeufsTer14
ENST00000480266.5:c.1129del	ENSP00000479015.1:p.Ser377LeufsTer14
ENST00000480266.6:c.1129del	ENSP00000479015.1:p.Ser377LeufsTer14