Canonical Allele Identifier: CA2785997404
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127853906_127853907insGTGGGCT , CM000671.2:g.127853906_127853907insGTGGGCT GRCh38
NC_000009.11:g.130616185_130616186insGTGGGCT , CM000671.1:g.130616185_130616186insGTGGGCT GRCh37
NC_000009.10:g.129656006_129656007insGTGGGCT NCBI36
NG_009551.1:g.5862_5863insAGCCCAC , LRG_589:g.5862_5863insAGCCCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.67+382_67+383insAGCCCAC MANE Select ENSP00000362299.4:n.67+382_67+383insAGCCCAC
ENST00000344849.4:c.67+382_67+383insAGCCCAC ENSP00000341917.3:n.67+382_67+383insAGCCCAC
ENST00000373203.8:c.67+382_67+383insAGCCCAC ENSP00000362299.4:n.67+382_67+383insAGCCCAC
NM_000118.3:c.67+382_67+383insAGCCCAC , LRG_589t1:c.67+382_67+383insAGCCCAC NP_000109.1:n.67+382_67+383insAGCCCAC
NM_001114753.2:c.67+382_67+383insAGCCCAC , LRG_589t2:c.67+382_67+383insAGCCCAC NP_001108225.1:n.67+382_67+383insAGCCCAC
NM_001114753.3:c.67+382_67+383insAGCCCAC MANE Select NP_001108225.1:n.67+382_67+383insAGCCCAC