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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:
CA253978
Gene: DLL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6835
ClinVar RCV Id:
RCV000007237
RCV000996922
dbSNP Id:
rs104894676
ExAC:
19:39998096 G / A
gnomAD v2:
19-39998096-G-A
gnomAD v4:
19-39507456-G-A
MyVariant Identifiers:
chr19:g.39998096G>A (hg19)
chr19:g.39507456G>A (hg38)
PubMed:
PMID:15200511
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39507456G>A , CM000681.2:g.39507456G>A
GRCh38
NC_000019.9:g.39998096G>A , CM000681.1:g.39998096G>A
GRCh37
NC_000019.8:g.44689936G>A
NCBI36
NG_008256.1:g.13540G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000356433.10:c.1511G>A
MANE Select
ENSP00000348810.4:p.Gly504Asp
ENST00000205143.4:c.1511G>A
ENSP00000205143.3:p.Gly504Asp
ENST00000356433.9:c.1511G>A
ENSP00000348810.4:p.Gly504Asp
NM_016941.3:c.1511G>A
NP_058637.1:p.Gly504Asp
NM_203486.2:c.1511G>A
NP_982353.1:p.Gly504Asp
NM_016941.4:c.1511G>A
NP_058637.1:p.Gly504Asp
NM_203486.3:c.1511G>A
MANE Select
NP_982353.1:p.Gly504Asp
Search 100 bp 5'
Search 100 bp 3'