Canonical Allele Identifier: CA1879981705

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815909_127815931delinsCGGCATGCTCACTGTGGGGGCCT , CM000671.2:g.127815909_127815931delinsCGGCATGCTCACTGTGGGGGCCT	GRCh38
NC_000009.11:g.130578188_130578210delinsCGGCATGCTCACTGTGGGGGCCT , CM000671.1:g.130578188_130578210delinsCGGCATGCTCACTGTGGGGGCCT	GRCh37
NC_000009.10:g.129618009_129618031delinsCGGCATGCTCACTGTGGGGGCCT	NCBI36
NG_009551.1:g.43838_43860delinsAGGCCCCCACAGTGAGCATGCCG , LRG_589:g.43838_43860delinsAGGCCCCCACAGTGAGCATGCCG
NG_023245.1:g.18035_18057delinsCGGCATGCTCACTGTGGGGGCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1306+12_1306+34delinsAGGCCCCCACAGTGAGCATGCCG	ENSP00000479015.1:n.1306+12_1306+34delins...
ENST00000373203.9:c.1852+12_1852+34delinsAGGCCCCCACAGTGAGCATGCCG MANE Select	ENSP00000362299.4:n.1852+12_1852+34delins...
ENST00000344849.4:c.1864_*8delinsAGGCCCCCACAGTGAGCATGCCG	ENSP00000341917.3:n.[c.1864_*8delinsAGGCC...
ENST00000373203.8:c.1852+12_1852+34delinsAGGCCCCCACAGTGAGCATGCCG	ENSP00000362299.4:n.1852+12_1852+34delins...
ENST00000480266.5:c.1306+12_1306+34delinsAGGCCCCCACAGTGAGCATGCCG	ENSP00000479015.1:n.1306+12_1306+34delins...
NM_000118.3:c.1864_*8delinsAGGCCCCCACAGTGAGCATGCCG , LRG_589t1:c.1864_*8delinsAGGCCCCCACAGTGAGCATGCCG	NP_000109.1:n.[c.1864_*8delinsAGGCCCCCACA...
NM_001114753.2:c.1852+12_1852+34delinsAGGCCCCCACAGTGAGCATGCCG , LRG_589t2:c.1852+12_1852+34delinsAGGCCCCCACAGTGAGCATGCCG	NP_001108225.1:n.1852+12_1852+34delinsAGG...
NM_001278138.1:c.1306+12_1306+34delinsAGGCCCCCACAGTGAGCATGCCG	NP_001265067.1:n.1306+12_1306+34delinsAGG...
NM_001114753.3:c.1852+12_1852+34delinsAGGCCCCCACAGTGAGCATGCCG MANE Select	NP_001108225.1:n.1852+12_1852+34delinsAGG...
NM_001278138.2:c.1306+12_1306+34delinsAGGCCCCCACAGTGAGCATGCCG	NP_001265067.1:n.1306+12_1306+34delinsAGG...