Canonical Allele Identifier: CA2619945567

Gene: BBS10

Linked Data

• gnomAD v4: 12-76345772-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76345774_76345775del , CM000674.2:g.76345774_76345775del	GRCh38
NC_000012.11:g.76739554_76739555del , CM000674.1:g.76739554_76739555del	GRCh37
NC_000012.10:g.75263685_75263686del	NCBI36
NG_016357.1:g.7669_7670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.*39_*40del MANE Select	ENSP00000497413.1:n.*39_*40del
ENST00000393262.3:c.*39_*40del	ENSP00000376946.3:n.*39_*40del
NM_024685.3:c.*39_*40del	NP_078961.3:n.*39_*40del
NM_024685.4:c.*39_*40del MANE Select	NP_078961.3:n.*39_*40del