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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA248805
Gene: DLL4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204368
ClinVar RCV Id:
RCV000190434
RCV000195286
dbSNP Id:
rs796065344
MyVariant Identifiers:
chr15:g.41228845C>T (hg19)
chr15:g.40936647C>T (hg38)
PubMed:
PMID:26299364
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.40936647C>T , CM000677.2:g.40936647C>T
GRCh38
NC_000015.9:g.41228845C>T , CM000677.1:g.41228845C>T
GRCh37
NC_000015.8:g.39016137C>T
NCBI36
NG_046974.1:g.12315C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000249749.7:c.1660C>T
MANE Select
ENSP00000249749.5:p.Gln554Ter
ENST00000249749.6:c.1660C>T
ENSP00000249749.5:p.Gln554Ter
NM_019074.3:c.1660C>T
NP_061947.1:p.Gln554Ter
NM_019074.4:c.1660C>T
MANE Select
NP_061947.1:p.Gln554Ter
Search 100 bp 5'
Search 100 bp 3'