Canonical Allele Identifier: CA16041529
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370281
ClinVar RCV Id: RCV000410213
dbSNP Id: rs1057516371

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66523753del , CM000673.2:g.66523753del GRCh38
NC_000011.9:g.66291224del , CM000673.1:g.66291224del GRCh37
NC_000011.8:g.66047800del NCBI36
NG_009093.1:g.18106del

Transcript Alleles

HGVS Amino-acid change
NM_024649.4:c.981del (BBS1) VV NP_078925.3:p.Ala328GlnfsTer4
XM_005273874.3:c.*22-2285del (ZDHHC24) XP_005273931.1:p.=
XR_949860.1:n.808+404del (ZDHHC24)
NM_001348571.1:c.*22-2285del (ZDHHC24) VV NP_001335500.1:p.=
XM_005273874.4:c.*22-2285del (ZDHHC24)
XR_001747823.2:n.862+404del (ZDHHC24)
XR_949860.3:n.933+404del (ZDHHC24)
ENST00000318312.11:c.981del ENSP00000317469.7:p.Ala328GlnfsTer4
ENST00000393994.4:c.724-2370del ENSP00000377563.2:p.=
ENST00000419755.3:c.1092del ENSP00000398526.3:p.Ala365GlnfsTer4
ENST00000455748.6:c.690del ENSP00000405764.2:p.Ala231GlnfsTer4
ENST00000526760.5:c.*688del ENSP00000432140.1:p.=
ENST00000526986.5:c.*22-2285del ENSP00000431321.1:p.=
ENST00000527959.1:n.125del
ENST00000529766.5:n.988del
ENST00000529895.1:n.430del
ENST00000529955.5:n.952del
ENST00000532908.5:c.*641del ENSP00000431866.1:p.=
ENST00000534073.5:c.*143+404del ENSP00000436503.1:p.=
ENST00000630659.2:c.*688del ENSP00000486455.1:p.=