Canonical Allele Identifier: CA2047353034

Gene: BBS10

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76345804_76345805delinsCT , CM000674.2:g.76345804_76345805delinsCT	GRCh38
NC_000012.11:g.76739584_76739585delinsCT , CM000674.1:g.76739584_76739585delinsCT	GRCh37
NC_000012.10:g.75263715_75263716delinsCT	NCBI36
NG_016357.1:g.7638_7639delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.*8_*9delinsAG MANE Select	ENSP00000497413.1:n.*8_*9delinsAG
ENST00000393262.3:c.*8_*9delinsAG	ENSP00000376946.3:n.*8_*9delinsAG
NM_024685.3:c.*8_*9delinsAG	NP_078961.3:n.*8_*9delinsAG
NM_024685.4:c.*8_*9delinsAG MANE Select	NP_078961.3:n.*8_*9delinsAG