Canonical Allele Identifier: CA1139662035

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 869212
• ClinVar RCV Id: RCV001257323

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66521726_66524099del , CM000673.2:g.66521726_66524099del	GRCh38
NC_000011.9:g.66289197_66291570del , CM000673.1:g.66289197_66291570del	GRCh37
NC_000011.8:g.66045773_66048146del	NCBI36
NG_009093.1:g.16079_18452del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.830+350_1110+217del (BBS1)
ENST00000318312.11:c.830+350_1110+217del (BBS1)
ENST00000393994.4:c.723+1978_724-2024del (BBS1)	ENSP00000377563.2:n.723+1978_724-2024del
ENST00000419755.3:c.941+350_1221+217del
ENST00000455748.6:c.539+350_819+217del (BBS1)
ENST00000526760.5:c.*537+350_*817+217del (BBS1)
ENST00000526986.5:c.*22-2623_*22-250del (ZDHHC24)	ENSP00000431321.1:n.*22-2623_*22-250del
ENST00000529766.5:n.837+350_1117+217del (BBS1)
ENST00000529955.5:n.801+350_1081+217del (BBS1)
ENST00000534073.5:c.*143+66_*144-250del (ZDHHC24)	ENSP00000436503.1:n.*143+66_*144-250del
ENST00000630659.2:c.*537+350_*817+217del (BBS1)
NM_024649.4:c.830+350_1110+217del (BBS1)
XM_005273874.3:c.*22-2623_*22-250del (ZDHHC24)	XP_005273931.1:n.*22-2623_*22-250del
XR_949860.1:n.808+66_809-250del (ZDHHC24)
NM_001348571.1:c.*22-2623_*22-250del (ZDHHC24)	NP_001335500.1:n.*22-2623_*22-250del
XM_005273874.4:c.*22-2623_*22-250del (ZDHHC24)	XP_005273931.1:n.*22-2623_*22-250del
XR_001747823.2:n.862+66_863-250del (ZDHHC24)
XR_949860.3:n.933+66_934-250del (ZDHHC24)
NM_024649.5:c.830+350_1110+217del (BBS1)
NM_001348571.2:c.*22-2623_*22-250del (ZDHHC24)	NP_001335500.1:n.*22-2623_*22-250del