Canonical Allele Identifier: CA2047353052
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345844_76345848delinsACTTT , CM000674.2:g.76345844_76345848delinsACTTT GRCh38
NC_000012.11:g.76739624_76739628delinsACTTT , CM000674.1:g.76739624_76739628delinsACTTT GRCh37
NC_000012.10:g.75263755_75263759delinsACTTT NCBI36
NG_016357.1:g.7595_7599delinsAAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2137_2141delinsAAAGT MANE Select ENSP00000497413.1:p.Lys713=
ENST00000393262.3:c.2137_2141delinsAAAGT ENSP00000376946.3:p.Lys713=
NM_024685.3:c.2137_2141delinsAAAGT NP_078961.3:p.Lys713=
NM_024685.4:c.2137_2141delinsAAAGT MANE Select NP_078961.3:p.Lys713=
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