Canonical Allele Identifier: CA645549769

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824383_127824384delinsAA , CM000671.2:g.127824383_127824384delinsAA	GRCh38
NC_000009.11:g.130586662_130586663delinsAA , CM000671.1:g.130586662_130586663delinsAA	GRCh37
NC_000009.10:g.129626483_129626484delinsAA	NCBI36
NG_009551.1:g.35385_35386delinsTT , LRG_589:g.35385_35386delinsTT

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1054_1055delinsTT MANE Select	NP_001108225.1:p.Pro352Leu
ENST00000373203.9:c.1054_1055delinsTT MANE Select	ENSP00000362299.4:p.Pro352Leu
NM_000118.3:c.1054_1055delinsTT , LRG_589t1:c.1054_1055delinsTT	NP_000109.1:p.Pro352Leu
NM_001114753.2:c.1054_1055delinsTT , LRG_589t2:c.1054_1055delinsTT	NP_001108225.1:p.Pro352Leu
NM_001278138.1:c.508_509delinsTT	NP_001265067.1:p.Pro170Leu
NM_001278138.2:c.508_509delinsTT	NP_001265067.1:p.Pro170Leu
ENST00000344849.4:c.1054_1055delinsTT	ENSP00000341917.3:p.Pro352Leu
ENST00000373203.8:c.1054_1055delinsTT	ENSP00000362299.4:p.Pro352Leu
ENST00000480266.5:c.508_509delinsTT	ENSP00000479015.1:p.Pro170Leu
ENST00000480266.6:c.508_509delinsTT	ENSP00000479015.1:p.Pro170Leu
ENST00000486329.1:n.22_23delinsTT