Canonical Allele Identifier: CA1139770137
Gene: BBS10 HGNC NCBI

Linked Data

gnomAD v4: 12-76345847-TTC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345849_76345850del , CM000674.2:g.76345849_76345850del GRCh38
NC_000012.11:g.76739629_76739630del , CM000674.1:g.76739629_76739630del GRCh37
NC_000012.10:g.75263760_75263761del NCBI36
NG_016357.1:g.7594_7595del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2136_2137del MANE Select ENSP00000497413.1:p.Lys713SerfsTer9
ENST00000393262.3:c.2136_2137del ENSP00000376946.3:p.Lys713SerfsTer9
NM_024685.3:c.2136_2137del NP_078961.3:p.Lys713SerfsTer9
NM_024685.4:c.2136_2137del MANE Select NP_078961.3:p.Lys713SerfsTer9
Search 100 bp 5'
Search 100 bp 3'