Canonical Allele Identifier: CA4106552
Gene: DLL1 HGNC NCBI
COSMIC:
COSN26729160 (not active)
MyVariant.info:
GRCh38 chr6:g.170282835T>G
GRCh37 chr6:g.170591923T>G
gnomAD v2:
6:170591923 T / G
gnomAD v3:
6:170282835 T / G
gnomAD v4:
chr6-170282835-T-G
Joint Max Group AF 0.35330038 (NFE)
Genomes Max Group AF 0.34274427 (NFE)
Exomes Max Group AF 0.35374681 (NFE)
ClinVar RCV:
RCV001677389
ClinVar Variation:
1267364
dbSNP:
1033583
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.170282835T>G , CM000668.2:g.170282835T>G GRCh38
NC_000006.11:g.170591923T>G , CM000668.1:g.170591923T>G GRCh37
NC_000006.10:g.170433848T>G NCBI36
NG_027940.1:g.12775A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366756.4:c.*39A>C MANE Select ENSP00000355718.3:n.*39A>C
ENST00000366756.3:c.*39A>C ENSP00000355718.3:n.*39A>C
NM_005618.3:c.*39A>C NP_005609.3:n.*39A>C
XM_005266934.2:c.*39A>C XP_005266991.1:n.*39A>C
XM_011535758.1:c.*39A>C XP_011534060.1:n.*39A>C
XM_005266934.4:c.*39A>C XP_005266991.1:n.*39A>C
NM_005618.4:c.*39A>C MANE Select NP_005609.3:n.*39A>C
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