Canonical Allele Identifier: CA2047353228
Gene: BBS10 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346260_76346261delinsTG , CM000674.2:g.76346260_76346261delinsTG GRCh38
NC_000012.11:g.76740040_76740041delinsTG , CM000674.1:g.76740040_76740041delinsTG GRCh37
NC_000012.10:g.75264171_75264172delinsTG NCBI36
NG_016357.1:g.7182_7183delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1724_1725delinsCA MANE Select ENSP00000497413.1:p.Pro575=
ENST00000393262.3:c.1724_1725delinsCA ENSP00000376946.3:p.Pro575=
NM_024685.3:c.1724_1725delinsCA NP_078961.3:p.Pro575=
NM_024685.4:c.1724_1725delinsCA MANE Select NP_078961.3:p.Pro575=
Search 100 bp 5'
Search 100 bp 3'