Canonical Allele Identifier: CA2047353037

Gene: BBS10

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76345806_76345807delinsTC , CM000674.2:g.76345806_76345807delinsTC	GRCh38
NC_000012.11:g.76739586_76739587delinsTC , CM000674.1:g.76739586_76739587delinsTC	GRCh37
NC_000012.10:g.75263717_75263718delinsTC	NCBI36
NG_016357.1:g.7636_7637delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.*6_*7delinsGA MANE Select	ENSP00000497413.1:n.*6_*7delinsGA
ENST00000393262.3:c.*6_*7delinsGA	ENSP00000376946.3:n.*6_*7delinsGA
NM_024685.3:c.*6_*7delinsGA	NP_078961.3:n.*6_*7delinsGA
NM_024685.4:c.*6_*7delinsGA MANE Select	NP_078961.3:n.*6_*7delinsGA