Canonical Allele Identifier: CA2739265076

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824835_127824836insTTGTCTTC , CM000671.2:g.127824835_127824836insTTGTCTTC	GRCh38
NC_000009.11:g.130587114_130587115insTTGTCTTC , CM000671.1:g.130587114_130587115insTTGTCTTC	GRCh37
NC_000009.10:g.129626935_129626936insTTGTCTTC	NCBI36
NG_009551.1:g.34933_34934insGAAGACAA , LRG_589:g.34933_34934insGAAGACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.409_410insGAAGACAA	ENSP00000479015.1:p.Leu137ArgfsTer?
ENST00000373203.9:c.955_956insGAAGACAA MANE Select	ENSP00000362299.4:p.Leu319ArgfsTer?
ENST00000344849.4:c.955_956insGAAGACAA	ENSP00000341917.3:p.Leu319ArgfsTer?
ENST00000373203.8:c.955_956insGAAGACAA	ENSP00000362299.4:p.Leu319ArgfsTer?
ENST00000480266.5:c.409_410insGAAGACAA	ENSP00000479015.1:p.Leu137ArgfsTer?
NM_000118.3:c.955_956insGAAGACAA , LRG_589t1:c.955_956insGAAGACAA	NP_000109.1:p.Leu319ArgfsTer?
NM_001114753.2:c.955_956insGAAGACAA , LRG_589t2:c.955_956insGAAGACAA	NP_001108225.1:p.Leu319ArgfsTer?
NM_001278138.1:c.409_410insGAAGACAA	NP_001265067.1:p.Leu137ArgfsTer?
NM_001114753.3:c.955_956insGAAGACAA MANE Select	NP_001108225.1:p.Leu319ArgfsTer?
NM_001278138.2:c.409_410insGAAGACAA	NP_001265067.1:p.Leu137ArgfsTer?