Canonical Allele Identifier: CA16041532
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371262
ClinVar RCV Id: RCV000411939

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66531690dup , CM000673.2:g.66531690dup GRCh38
NC_000011.9:g.66299161dup , CM000673.1:g.66299161dup GRCh37
NC_000011.8:g.66055737dup NCBI36
NG_009093.1:g.26043dup

Transcript Alleles

HGVS Amino-acid change
NM_024649.4:c.1643dup (BBS1) VV NP_078925.3:p.Glu549GlyfsTer9
XM_005273874.3:c.560-4684dup (ZDHHC24) XP_005273931.1:p.=
XM_011544891.1:c.560-2202dup (ZDHHC24) XP_011543193.1:p.=
XM_011544894.1:c.560-4684dup (ZDHHC24) XP_011543196.1:p.=
XM_011544895.1:c.560-7414dup (ZDHHC24) XP_011543197.1:p.=
XR_949860.1:n.616-4684dup (ZDHHC24)
NM_001348571.1:c.560-2202dup (ZDHHC24) VV NP_001335500.1:p.=
XM_005273874.4:c.560-4684dup (ZDHHC24)
XM_011544894.2:c.560-4684dup (ZDHHC24)
XR_001747823.2:n.741-7414dup (ZDHHC24)
XR_949860.3:n.741-4684dup (ZDHHC24)
ENST00000318312.11:c.1643dup ENSP00000317469.7:p.Glu549GlyfsTer9
ENST00000393994.4:c.1256dup ENSP00000377563.2:p.Glu420GlyfsTer9
ENST00000419755.3:c.1754dup ENSP00000398526.3:p.Glu586GlyfsTer9
ENST00000455748.6:c.1352dup ENSP00000405764.2:p.Glu452GlyfsTer9
ENST00000526760.5:c.*1350dup ENSP00000432140.1:p.=
ENST00000526986.5:c.560-2202dup ENSP00000431321.1:p.=
ENST00000529955.5:n.1614dup
ENST00000534073.5:c.560-4684dup ENSP00000436503.1:p.=
ENST00000630659.2:c.*1350dup ENSP00000486455.1:p.=