Canonical Allele Identifier: CA2047353252
Gene: BBS10 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346307_76346308delinsCG , CM000674.2:g.76346307_76346308delinsCG GRCh38
NC_000012.11:g.76740087_76740088delinsCG , CM000674.1:g.76740087_76740088delinsCG GRCh37
NC_000012.10:g.75264218_75264219delinsCG NCBI36
NG_016357.1:g.7135_7136delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1677_1678delinsCG MANE Select ENSP00000497413.1:p.Tyr559=
ENST00000393262.3:c.1677_1678delinsCG ENSP00000376946.3:p.Tyr559=
NM_024685.3:c.1677_1678delinsCG NP_078961.3:p.Tyr559=
NM_024685.4:c.1677_1678delinsCG MANE Select NP_078961.3:p.Tyr559=
Search 100 bp 5'
Search 100 bp 3'