Canonical Allele Identifier: CA2047353049
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345840_76345844delinsGTGAA , CM000674.2:g.76345840_76345844delinsGTGAA GRCh38
NC_000012.11:g.76739620_76739624delinsGTGAA , CM000674.1:g.76739620_76739624delinsGTGAA GRCh37
NC_000012.10:g.75263751_75263755delinsGTGAA NCBI36
NG_016357.1:g.7599_7603delinsTTCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2141_2145delinsTTCAC MANE Select ENSP00000497413.1:p.Val714=
ENST00000393262.3:c.2141_2145delinsTTCAC ENSP00000376946.3:p.Val714=
NM_024685.3:c.2141_2145delinsTTCAC NP_078961.3:p.Val714=
NM_024685.4:c.2141_2145delinsTTCAC MANE Select NP_078961.3:p.Val714=
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