Canonical Allele Identifier: CA2047353219
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346241_76346242delinsTC , CM000674.2:g.76346241_76346242delinsTC GRCh38
NC_000012.11:g.76740021_76740022delinsTC , CM000674.1:g.76740021_76740022delinsTC GRCh37
NC_000012.10:g.75264152_75264153delinsTC NCBI36
NG_016357.1:g.7201_7202delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.1743_1744delinsGA MANE Select ENSP00000497413.1:p.Pro581=
ENST00000393262.3:c.1743_1744delinsGA ENSP00000376946.3:p.Pro581=
NM_024685.3:c.1743_1744delinsGA NP_078961.3:p.Pro581=
NM_024685.4:c.1743_1744delinsGA MANE Select NP_078961.3:p.Pro581=
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