Canonical Allele Identifier: CA390982668
Community Standard Title: NM_003836.7(DLK1):c.112G>T (p.Glu38Ter)
Gene: DLK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.100728440G>T , CM000676.2:g.100728440G>T GRCh38
NC_000014.8:g.101194777G>T , CM000676.1:g.101194777G>T GRCh37
NC_000014.7:g.100264530G>T NCBI36
NG_016863.2:g.6576G>T
NG_016863.3:g.6576G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003836.7:c.112G>T MANE Select NP_003827.4:p.Glu38Ter
ENST00000341267.9:c.112G>T MANE Select ENSP00000340292.4:p.Glu38Ter
NM_001317172.1:c.112G>T NP_001304101.1:p.Glu38Ter
NM_001317172.2:c.112G>T NP_001304101.2:p.Glu38Ter
NM_003836.5:c.112G>T NP_003827.3:p.Glu38Ter
NM_003836.6:c.112G>T NP_003827.3:p.Glu38Ter
ENST00000331224.10:c.112G>T ENSP00000331081.6:p.Glu38Ter
ENST00000341267.8:c.112G>T ENSP00000340292.4:p.Glu38Ter
ENST00000392848.9:c.112G>T ENSP00000376589.5:p.Glu38Ter
ENST00000555747.1:n.288G>T
ENST00000556051.1:c.112G>T ENSP00000450821.1:p.Glu38Ter