Canonical Allele Identifier: CA2785996491
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819567_127819572dup , CM000671.2:g.127819567_127819572dup GRCh38
NC_000009.11:g.130581846_130581851dup , CM000671.1:g.130581846_130581851dup GRCh37
NC_000009.10:g.129621667_129621672dup NCBI36
NG_009551.1:g.40202_40207dup , LRG_589:g.40202_40207dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.765+55_765+60dup ENSP00000479015.1:n.765+55_765+60dup
ENST00000373203.9:c.1311+55_1311+60dup MANE Select ENSP00000362299.4:n.1311+55_1311+60dup
ENST00000344849.4:c.1311+55_1311+60dup ENSP00000341917.3:n.1311+55_1311+60dup
ENST00000373203.8:c.1311+55_1311+60dup ENSP00000362299.4:n.1311+55_1311+60dup
ENST00000480266.5:c.765+55_765+60dup ENSP00000479015.1:n.765+55_765+60dup
ENST00000486329.1:n.334_339dup
NM_000118.3:c.1311+55_1311+60dup , LRG_589t1:c.1311+55_1311+60dup NP_000109.1:n.1311+55_1311+60dup
NM_001114753.2:c.1311+55_1311+60dup , LRG_589t2:c.1311+55_1311+60dup NP_001108225.1:n.1311+55_1311+60dup
NM_001278138.1:c.765+55_765+60dup NP_001265067.1:n.765+55_765+60dup
NR_136302.1:n.1568+856_1568+861dup
NM_001114753.3:c.1311+55_1311+60dup MANE Select NP_001108225.1:n.1311+55_1311+60dup
NM_001278138.2:c.765+55_765+60dup NP_001265067.1:n.765+55_765+60dup