Canonical Allele Identifier: CA1879973981

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825041_127825057delinsGGGTTATGCCAGGCCTC , CM000671.2:g.127825041_127825057delinsGGGTTATGCCAGGCCTC	GRCh38
NC_000009.11:g.130587320_130587336delinsGGGTTATGCCAGGCCTC , CM000671.1:g.130587320_130587336delinsGGGTTATGCCAGGCCTC	GRCh37
NC_000009.10:g.129627141_129627157delinsGGGTTATGCCAGGCCTC	NCBI36
NG_009551.1:g.34712_34728delinsGAGGCCTGGCATAACCC , LRG_589:g.34712_34728delinsGAGGCCTGGCATAACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.271-83_271-67delinsGAGGCCTGGCATAACCC	ENSP00000479015.1:n.271-83_271-67delinsGAGGCCTGGCATAACCC
ENST00000373203.9:c.817-83_817-67delinsGAGGCCTGGCATAACCC MANE Select	ENSP00000362299.4:n.817-83_817-67delinsGAGGCCTGGCATAACCC
ENST00000344849.4:c.817-83_817-67delinsGAGGCCTGGCATAACCC	ENSP00000341917.3:n.817-83_817-67delinsGAGGCCTGGCATAACCC
ENST00000373203.8:c.817-83_817-67delinsGAGGCCTGGCATAACCC	ENSP00000362299.4:n.817-83_817-67delinsGAGGCCTGGCATAACCC
ENST00000480266.5:c.271-83_271-67delinsGAGGCCTGGCATAACCC	ENSP00000479015.1:n.271-83_271-67delinsGAGGCCTGGCATAACCC
NM_000118.3:c.817-83_817-67delinsGAGGCCTGGCATAACCC , LRG_589t1:c.817-83_817-67delinsGAGGCCTGGCATAACCC	NP_000109.1:n.817-83_817-67delinsGAGGCCTGGCATAACCC
NM_001114753.2:c.817-83_817-67delinsGAGGCCTGGCATAACCC , LRG_589t2:c.817-83_817-67delinsGAGGCCTGGCATAACCC	NP_001108225.1:n.817-83_817-67delinsGAGGCCTGGCATAACCC
NM_001278138.1:c.271-83_271-67delinsGAGGCCTGGCATAACCC	NP_001265067.1:n.271-83_271-67delinsGAGGCCTGGCATAACCC
NM_001114753.3:c.817-83_817-67delinsGAGGCCTGGCATAACCC MANE Select	NP_001108225.1:n.817-83_817-67delinsGAGGCCTGGCATAACCC
NM_001278138.2:c.271-83_271-67delinsGAGGCCTGGCATAACCC	NP_001265067.1:n.271-83_271-67delinsGAGGCCTGGCATAACCC