Canonical Allele Identifier: CA2575230722

Gene: BBS10

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76345785_76345786del , CM000674.2:g.76345785_76345786del	GRCh38
NC_000012.11:g.76739565_76739566del , CM000674.1:g.76739565_76739566del	GRCh37
NC_000012.10:g.75263696_75263697del	NCBI36
NG_016357.1:g.7659_7660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.*29_*30del MANE Select	ENSP00000497413.1:n.*29_*30del
ENST00000393262.3:c.*29_*30del	ENSP00000376946.3:n.*29_*30del
NM_024685.3:c.*29_*30del	NP_078961.3:n.*29_*30del
NM_024685.4:c.*29_*30del MANE Select	NP_078961.3:n.*29_*30del