ClinGen Allele Registry
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Canonical Allele Identifier:
CA248784013
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr13:g.38349765_38349767del
GRCh37
chr13:g.38923902_38923904del
Linked Data - Sequence & Population
gnomAD v3:
13:38349764 TTCA / T
gnomAD v4:
chr13-38349764-TTCA-T
Joint Max Group AF
0.00013718 (SAS)
Exomes Max Group AF
0.0001358 (SAS)
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000585791
RCV000782053
ClinVar Variation:
495149
dbSNP:
747359907
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.38349765_38349767del , CM000675.2:g.38349765_38349767del
GRCh38
NC_000013.10:g.38923902_38923904del , CM000675.1:g.38923902_38923904del
GRCh37
NC_000013.9:g.37821902_37821904del
NCBI36
Search 100 bp 5'
Search 100 bp 3'