Canonical Allele Identifier: CA4106612
Gene: DLL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 235090
ClinVar RCV Id: RCV000223770 RCV003556283
dbSNP Id: rs760189276
ExAC: 6:170592125 G / A
gnomAD v2: 6-170592125-G-A
gnomAD v3: 6-170283037-G-A
gnomAD v4: 6-170283037-G-A
COSMIC: COSM3860538
MyVariant Identifiers: chr6:g.170592125G>A (hg19) chr6:g.170283037G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.170283037G>A , CM000668.2:g.170283037G>A GRCh38
NC_000006.11:g.170592125G>A , CM000668.1:g.170592125G>A GRCh37
NC_000006.10:g.170434050G>A NCBI36
NG_027940.1:g.12573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366756.4:c.2117C>T MANE Select ENSP00000355718.3:p.Ser706Leu
ENST00000366756.3:c.2117C>T ENSP00000355718.3:p.Ser706Leu
NM_005618.3:c.2117C>T NP_005609.3:p.Ser706Leu
XM_005266934.2:c.1520C>T XP_005266991.1:p.Ser507Leu
XM_011535758.1:c.2117C>T XP_011534060.1:p.Ser706Leu
XM_005266934.4:c.1520C>T XP_005266991.1:p.Ser507Leu
NM_005618.4:c.2117C>T MANE Select NP_005609.3:p.Ser706Leu
Search 100 bp 5'
Search 100 bp 3'