Canonical Allele Identifier: CA1879974299

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825242_127825248delinsTGTTGTG , CM000671.2:g.127825242_127825248delinsTGTTGTG	GRCh38
NC_000009.11:g.130587521_130587527delinsTGTTGTG , CM000671.1:g.130587521_130587527delinsTGTTGTG	GRCh37
NC_000009.10:g.129627342_129627348delinsTGTTGTG	NCBI36
NG_009551.1:g.34521_34527delinsCACAACA , LRG_589:g.34521_34527delinsCACAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.253_259delinsCACAACA	ENSP00000479015.1:p.His85=
ENST00000373203.9:c.799_805delinsCACAACA MANE Select	ENSP00000362299.4:p.His267=
ENST00000344849.4:c.799_805delinsCACAACA	ENSP00000341917.3:p.His267=
ENST00000373203.8:c.799_805delinsCACAACA	ENSP00000362299.4:p.His267=
ENST00000480266.5:c.253_259delinsCACAACA	ENSP00000479015.1:p.His85=
NM_000118.3:c.799_805delinsCACAACA , LRG_589t1:c.799_805delinsCACAACA	NP_000109.1:p.His267=
NM_001114753.2:c.799_805delinsCACAACA , LRG_589t2:c.799_805delinsCACAACA	NP_001108225.1:p.His267=
NM_001278138.1:c.253_259delinsCACAACA	NP_001265067.1:p.His85=
NM_001114753.3:c.799_805delinsCACAACA MANE Select	NP_001108225.1:p.His267=
NM_001278138.2:c.253_259delinsCACAACA	NP_001265067.1:p.His85=