Canonical Allele Identifier: CA2726584257
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs2136089556
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345757del , CM000674.2:g.76345757del GRCh38
NC_000012.11:g.76739537del , CM000674.1:g.76739537del GRCh37
NC_000012.10:g.75263668del NCBI36
NG_016357.1:g.7686del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*56del MANE Select ENSP00000497413.1:n.*56del
ENST00000393262.3:c.*56del ENSP00000376946.3:n.*56del
NM_024685.3:c.*56del NP_078961.3:n.*56del
NM_024685.4:c.*56del MANE Select NP_078961.3:n.*56del
Search 100 bp 5'
Search 100 bp 3'