Canonical Allele Identifier: CA2575230714
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76345734-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345737del , CM000674.2:g.76345737del GRCh38
NC_000012.11:g.76739517del , CM000674.1:g.76739517del GRCh37
NC_000012.10:g.75263648del NCBI36
NG_016357.1:g.7708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.*78del MANE Select ENSP00000497413.1:n.*78del
ENST00000393262.3:c.*78del ENSP00000376946.3:n.*78del
NM_024685.3:c.*78del NP_078961.3:n.*78del
NM_024685.4:c.*78del MANE Select NP_078961.3:n.*78del
Search 100 bp 5'
Search 100 bp 3'