Canonical Allele Identifier: CA16041529

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 370281
• ClinVar RCV Id: RCV000410213 ; RCV001865261
• dbSNP Id: rs1057516371
• MyVariant Identifiers: chr11:g.66291224del (hg19) ; chr11:g.66523753del (hg38)

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
ENST00000318312.12:c.981del (BBS1) MANE Select	ENSP00000317469.7:p.Ala328GlnfsTer4
ENST00000318312.11:c.981del (BBS1)	ENSP00000317469.7:p.Ala328GlnfsTer4
ENST00000393994.4:c.724-2370del (BBS1)	ENSP00000377563.2:n.724-2370del
ENST00000419755.3:c.1092del	ENSP00000398526.3:p.Ala365GlnfsTer4
ENST00000455748.6:c.690del (BBS1)	ENSP00000405764.2:p.Ala231GlnfsTer4
ENST00000526760.5:c.*688del (BBS1)	ENSP00000432140.1:n.*688del
ENST00000526986.5:c.*22-2285del (ZDHHC24)	ENSP00000431321.1:n.*22-2285del
ENST00000527959.1:n.125del (BBS1)
ENST00000529766.5:n.988del (BBS1)
ENST00000529895.1:n.430del (BBS1)
ENST00000529955.5:n.952del (BBS1)
ENST00000532908.5:c.*641del (BBS1)	ENSP00000431866.1:n.*641del
ENST00000534073.5:c.*143+404del (ZDHHC24)	ENSP00000436503.1:n.*143+404del
ENST00000630659.2:c.*688del (BBS1)	ENSP00000486455.1:n.*688del
NM_024649.4:c.981del (BBS1)	NP_078925.3:p.Ala328GlnfsTer4
XM_005273874.3:c.*22-2285del (ZDHHC24)	XP_005273931.1:n.*22-2285del
XR_949860.1:n.808+404del (ZDHHC24)
NM_001348571.1:c.*22-2285del (ZDHHC24)	NP_001335500.1:n.*22-2285del
XM_005273874.4:c.*22-2285del (ZDHHC24)	XP_005273931.1:n.*22-2285del
XR_001747823.2:n.862+404del (ZDHHC24)
XR_949860.3:n.933+404del (ZDHHC24)
NM_024649.5:c.981del (BBS1) MANE Select	NP_078925.3:p.Ala328GlnfsTer4
NM_001348571.2:c.*22-2285del (ZDHHC24)	NP_001335500.1:n.*22-2285del