Canonical Allele Identifier: CA2575230730
Gene: BBS10 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76347042_76347044del , CM000674.2:g.76347042_76347044del GRCh38
NC_000012.11:g.76740822_76740824del , CM000674.1:g.76740822_76740824del GRCh37
NC_000012.10:g.75264953_75264955del NCBI36
NG_016357.1:g.6402_6404del

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.944_946del MANE Select ENSP00000497413.1:p.Gln315del
ENST00000393262.3:c.944_946del ENSP00000376946.3:p.Gln315del
NM_024685.3:c.944_946del NP_078961.3:p.Gln315del
NM_024685.4:c.944_946del MANE Select NP_078961.3:p.Gln315del
Search 100 bp 5'
Search 100 bp 3'