Canonical Allele Identifier: CA1879972713

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824413_127824423delinsTGGATCGGTGC , CM000671.2:g.127824413_127824423delinsTGGATCGGTGC	GRCh38
NC_000009.11:g.130586692_130586702delinsTGGATCGGTGC , CM000671.1:g.130586692_130586702delinsTGGATCGGTGC	GRCh37
NC_000009.10:g.129626513_129626523delinsTGGATCGGTGC	NCBI36
NG_009551.1:g.35346_35356delinsGCACCGATCCA , LRG_589:g.35346_35356delinsGCACCGATCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.469_479delinsGCACCGATCCA	ENSP00000479015.1:p.Ala157=
ENST00000373203.9:c.1015_1025delinsGCACCGATCCA MANE Select	ENSP00000362299.4:p.Ala339=
ENST00000344849.4:c.1015_1025delinsGCACCGATCCA	ENSP00000341917.3:p.Ala339=
ENST00000373203.8:c.1015_1025delinsGCACCGATCCA	ENSP00000362299.4:p.Ala339=
ENST00000480266.5:c.469_479delinsGCACCGATCCA	ENSP00000479015.1:p.Ala157=
NM_000118.3:c.1015_1025delinsGCACCGATCCA , LRG_589t1:c.1015_1025delinsGCACCGATCCA	NP_000109.1:p.Ala339=
NM_001114753.2:c.1015_1025delinsGCACCGATCCA , LRG_589t2:c.1015_1025delinsGCACCGATCCA	NP_001108225.1:p.Ala339=
NM_001278138.1:c.469_479delinsGCACCGATCCA	NP_001265067.1:p.Ala157=
NM_001114753.3:c.1015_1025delinsGCACCGATCCA MANE Select	NP_001108225.1:p.Ala339=
NM_001278138.2:c.469_479delinsGCACCGATCCA	NP_001265067.1:p.Ala157=