Canonical Allele Identifier: CA2695199115
Gene: BBS10 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679970
ClinVar RCV Id: RCV003465033
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346909del , CM000674.2:g.76346909del GRCh38
NC_000012.11:g.76740689del , CM000674.1:g.76740689del GRCh37
NC_000012.10:g.75264820del NCBI36
NG_016357.1:g.6534del

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1076del MANE Select ENSP00000497413.1:p.Gln359ArgfsTer10
ENST00000393262.3:c.1076del ENSP00000376946.3:p.Gln359ArgfsTer10
NM_024685.3:c.1076del NP_078961.3:p.Gln359ArgfsTer10
NM_024685.4:c.1076del MANE Select NP_078961.3:p.Gln359ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'