Canonical Allele Identifier: CA2802828979
Gene: DLK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100734307_100734308insCG , CM000676.2:g.100734307_100734308insCG GRCh38
NC_000014.8:g.101200644_101200645insCG , CM000676.1:g.101200644_101200645insCG GRCh37
NC_000014.7:g.100270397_100270398insCG NCBI36
NG_016863.2:g.12443_12444insCG
NG_016863.3:g.12443_12444insCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000341267.9:c.563_564insCG MANE Select ENSP00000340292.4:p.Gly189ValfsTer22
ENST00000331224.10:c.563_564insCG ENSP00000331081.6:p.Gly189ValfsTer22
ENST00000341267.8:c.563_564insCG ENSP00000340292.4:p.Gly189ValfsTer22
NM_003836.5:c.563_564insCG NP_003827.3:p.Gly189ValfsTer22
NM_001317172.1:c.563_564insCG NP_001304101.1:p.Gly189ValfsTer22
NM_003836.6:c.563_564insCG NP_003827.3:p.Gly189ValfsTer22
NM_001317172.2:c.563_564insCG NP_001304101.2:p.Gly189ValfsTer22
NM_003836.7:c.563_564insCG MANE Select NP_003827.4:p.Gly189ValfsTer22