Canonical Allele Identifier: CA2695211343

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829804_127829805del , CM000671.2:g.127829804_127829805del	GRCh38
NC_000009.11:g.130592083_130592084del , CM000671.1:g.130592083_130592084del	GRCh37
NC_000009.10:g.129631904_129631905del	NCBI36
NG_009551.1:g.29967_29968del , LRG_589:g.29967_29968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-302_-301del	ENSP00000479015.1:n.-302_-301del
ENST00000373203.9:c.245_246del MANE Select	ENSP00000362299.4:p.Leu82ProfsTer?
ENST00000344849.4:c.245_246del	ENSP00000341917.3:p.Leu82ProfsTer?
ENST00000373203.8:c.245_246del	ENSP00000362299.4:p.Leu82ProfsTer?
ENST00000480266.5:c.-302_-301del	ENSP00000479015.1:n.-302_-301del
NM_000118.3:c.245_246del , LRG_589t1:c.245_246del	NP_000109.1:p.Leu82ProfsTer?
NM_001114753.2:c.245_246del , LRG_589t2:c.245_246del	NP_001108225.1:p.Leu82ProfsTer?
NM_001278138.1:c.-302_-301del	NP_001265067.1:n.-302_-301del
XR_001746952.2:n.83-2594_83-2593del
NM_001114753.3:c.245_246del MANE Select	NP_001108225.1:p.Leu82ProfsTer?
NM_001278138.2:c.-302_-301del	NP_001265067.1:n.-302_-301del