Canonical Allele Identifier: CA2047353073
Gene: BBS10 HGNC NCBI

Linked Data

dbSNP Id: rs1951753412
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345897dup , CM000674.2:g.76345897dup GRCh38
NC_000012.11:g.76739677dup , CM000674.1:g.76739677dup GRCh37
NC_000012.10:g.75263808dup NCBI36
NG_016357.1:g.7550dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2092dup MANE Select ENSP00000497413.1:p.Ile698AsnfsTer5
ENST00000393262.3:c.2092dup ENSP00000376946.3:p.Ile698AsnfsTer5
NM_024685.3:c.2092dup NP_078961.3:p.Ile698AsnfsTer5
NM_024685.4:c.2092dup MANE Select NP_078961.3:p.Ile698AsnfsTer5
Search 100 bp 5'
Search 100 bp 3'