Canonical Allele Identifier: CA2619945556

Gene: BBS10

Linked Data

• gnomAD v4: 12-76345752-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.76345753_76345754del , CM000674.2:g.76345753_76345754del	GRCh38
NC_000012.11:g.76739533_76739534del , CM000674.1:g.76739533_76739534del	GRCh37
NC_000012.10:g.75263664_75263665del	NCBI36
NG_016357.1:g.7689_7690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650064.2:c.*59_*60del MANE Select	ENSP00000497413.1:n.*59_*60del
ENST00000393262.3:c.*59_*60del	ENSP00000376946.3:n.*59_*60del
NM_024685.3:c.*59_*60del	NP_078961.3:n.*59_*60del
NM_024685.4:c.*59_*60del MANE Select	NP_078961.3:n.*59_*60del