Canonical Allele Identifier: CA2047353056
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345857_76345859delinsGTC , CM000674.2:g.76345857_76345859delinsGTC GRCh38
NC_000012.11:g.76739637_76739639delinsGTC , CM000674.1:g.76739637_76739639delinsGTC GRCh37
NC_000012.10:g.75263768_75263770delinsGTC NCBI36
NG_016357.1:g.7584_7586delinsGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2126_2128delinsGAC MANE Select ENSP00000497413.1:p.Arg709=
ENST00000393262.3:c.2126_2128delinsGAC ENSP00000376946.3:p.Arg709=
NM_024685.3:c.2126_2128delinsGAC NP_078961.3:p.Arg709=
NM_024685.4:c.2126_2128delinsGAC MANE Select NP_078961.3:p.Arg709=
Search 100 bp 5'
Search 100 bp 3'