Canonical Allele Identifier: CA2840214907

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529873del , CM000673.2:g.66529873del	GRCh38
NC_000011.9:g.66297344del , CM000673.1:g.66297344del	GRCh37
NC_000011.8:g.66053920del	NCBI36
NG_009093.1:g.24226del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1394del (BBS1) MANE Select	ENSP00000317469.7:p.Arg465ProfsTer11
ENST00000318312.11:c.1394del (BBS1)	ENSP00000317469.7:p.Arg465ProfsTer11
ENST00000393994.4:c.1007del (BBS1)	ENSP00000377563.2:p.Arg336ProfsTer11
ENST00000419755.3:c.1505del	ENSP00000398526.3:p.Arg502ProfsTer11
ENST00000455748.6:c.1103del (BBS1)	ENSP00000405764.2:p.Arg368ProfsTer11
ENST00000526760.5:c.*1101del (BBS1)	ENSP00000432140.1:n.*1101del
ENST00000526986.5:c.560-385del (ZDHHC24)	ENSP00000431321.1:n.560-385del
ENST00000529955.5:n.1365del (BBS1)
ENST00000534073.5:c.560-2867del (ZDHHC24)	ENSP00000436503.1:n.560-2867del
ENST00000630659.2:c.*1101del (BBS1)	ENSP00000486455.1:n.*1101del
NM_024649.4:c.1394del (BBS1)	NP_078925.3:p.Arg465ProfsTer11
XM_005273874.3:c.560-2867del (ZDHHC24)	XP_005273931.1:n.560-2867del
XM_011544891.1:c.560-385del (ZDHHC24)	XP_011543193.1:n.560-385del
XM_011544894.1:c.560-2867del (ZDHHC24)	XP_011543196.1:n.560-2867del
XM_011544895.1:c.560-5597del (ZDHHC24)	XP_011543197.1:n.560-5597del
XR_949860.1:n.616-2867del (ZDHHC24)
NM_001348571.1:c.560-385del (ZDHHC24)	NP_001335500.1:n.560-385del
XM_005273874.4:c.560-2867del (ZDHHC24)	XP_005273931.1:n.560-2867del
XM_011544894.2:c.560-2867del (ZDHHC24)	XP_011543196.1:n.560-2867del
XR_001747823.2:n.741-5597del (ZDHHC24)
XR_949860.3:n.741-2867del (ZDHHC24)
NM_024649.5:c.1394del (BBS1) MANE Select	NP_078925.3:p.Arg465ProfsTer11
NM_001348571.2:c.560-385del (ZDHHC24)	NP_001335500.1:n.560-385del