Canonical Allele Identifier: CA2047353058
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76345858_76345862delinsTCTCT , CM000674.2:g.76345858_76345862delinsTCTCT GRCh38
NC_000012.11:g.76739638_76739642delinsTCTCT , CM000674.1:g.76739638_76739642delinsTCTCT GRCh37
NC_000012.10:g.75263769_75263773delinsTCTCT NCBI36
NG_016357.1:g.7581_7585delinsAGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650064.2:c.2123_2127delinsAGAGA MANE Select ENSP00000497413.1:p.Lys708=
ENST00000393262.3:c.2123_2127delinsAGAGA ENSP00000376946.3:p.Lys708=
NM_024685.3:c.2123_2127delinsAGAGA NP_078961.3:p.Lys708=
NM_024685.4:c.2123_2127delinsAGAGA MANE Select NP_078961.3:p.Lys708=
Search 100 bp 5'
Search 100 bp 3'