ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA117709555
Gene:
Linked Data
dbSNP Id:
rs4016330
gnomAD v2:
5-40414956-CTTG-C
gnomAD v3:
5-40414854-CTTG-C
gnomAD v4:
5-40414854-CTTG-C
COSMIC:
COSN20121998
MyVariant Identifiers:
chr5:g.40414960_40414962del (hg19)
chr5:g.40414957_40414959del (hg19)
chr5:g.40414858_40414860del (hg38)
chr5:g.40414855_40414857del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414868_40414870del , CM000667.2:g.40414868_40414870del
GRCh38
NC_000005.9:g.40414970_40414972del , CM000667.1:g.40414970_40414972del
GRCh37
NC_000005.8:g.40450727_40450729del
NCBI36
Search 100 bp 5'
Search 100 bp 3'