Canonical Allele Identifier: CA1879987119

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818726_127818729delinsCTCT , CM000671.2:g.127818726_127818729delinsCTCT	GRCh38
NC_000009.11:g.130581005_130581008delinsCTCT , CM000671.1:g.130581005_130581008delinsCTCT	GRCh37
NC_000009.10:g.129620826_129620829delinsCTCT	NCBI36
NG_009551.1:g.41040_41043delinsAGAG , LRG_589:g.41040_41043delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.869_872delinsAGAG	ENSP00000479015.1:p.Gln290=
ENST00000373203.9:c.1415_1418delinsAGAG MANE Select	ENSP00000362299.4:p.Gln472=
ENST00000344849.4:c.1415_1418delinsAGAG	ENSP00000341917.3:p.Gln472=
ENST00000373203.8:c.1415_1418delinsAGAG	ENSP00000362299.4:p.Gln472=
ENST00000480266.5:c.869_872delinsAGAG	ENSP00000479015.1:p.Gln290=
NM_000118.3:c.1415_1418delinsAGAG , LRG_589t1:c.1415_1418delinsAGAG	NP_000109.1:p.Gln472=
NM_001114753.2:c.1415_1418delinsAGAG , LRG_589t2:c.1415_1418delinsAGAG	NP_001108225.1:p.Gln472=
NM_001278138.1:c.869_872delinsAGAG	NP_001265067.1:p.Gln290=
NR_136302.1:n.1568+15_1568+18delinsCTCT
NM_001114753.3:c.1415_1418delinsAGAG MANE Select	NP_001108225.1:p.Gln472=
NM_001278138.2:c.869_872delinsAGAG	NP_001265067.1:p.Gln290=