Canonical Allele Identifier: CA2047353127
Gene: BBS10 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76346035_76346036delinsTC , CM000674.2:g.76346035_76346036delinsTC GRCh38
NC_000012.11:g.76739815_76739816delinsTC , CM000674.1:g.76739815_76739816delinsTC GRCh37
NC_000012.10:g.75263946_75263947delinsTC NCBI36
NG_016357.1:g.7407_7408delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000650064.2:c.1949_1950delinsGA MANE Select ENSP00000497413.1:p.Gly650=
ENST00000393262.3:c.1949_1950delinsGA ENSP00000376946.3:p.Gly650=
NM_024685.3:c.1949_1950delinsGA NP_078961.3:p.Gly650=
NM_024685.4:c.1949_1950delinsGA MANE Select NP_078961.3:p.Gly650=
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