Canonical Allele Identifier: CA2839791994

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529892del , CM000673.2:g.66529892del	GRCh38
NC_000011.9:g.66297363del , CM000673.1:g.66297363del	GRCh37
NC_000011.8:g.66053939del	NCBI36
NG_009093.1:g.24245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1413del (BBS1) MANE Select	ENSP00000317469.7:p.Glu472SerfsTer4
ENST00000318312.11:c.1413del (BBS1)	ENSP00000317469.7:p.Glu472SerfsTer4
ENST00000393994.4:c.1026del (BBS1)	ENSP00000377563.2:p.Glu343SerfsTer4
ENST00000419755.3:c.1524del	ENSP00000398526.3:p.Glu509SerfsTer4
ENST00000455748.6:c.1122del (BBS1)	ENSP00000405764.2:p.Glu375SerfsTer4
ENST00000526760.5:c.*1120del (BBS1)	ENSP00000432140.1:n.*1120del
ENST00000526986.5:c.560-404del (ZDHHC24)	ENSP00000431321.1:n.560-404del
ENST00000529955.5:n.1384del (BBS1)
ENST00000534073.5:c.560-2886del (ZDHHC24)	ENSP00000436503.1:n.560-2886del
ENST00000630659.2:c.*1120del (BBS1)	ENSP00000486455.1:n.*1120del
NM_024649.4:c.1413del (BBS1)	NP_078925.3:p.Glu472SerfsTer4
XM_005273874.3:c.560-2886del (ZDHHC24)	XP_005273931.1:n.560-2886del
XM_011544891.1:c.560-404del (ZDHHC24)	XP_011543193.1:n.560-404del
XM_011544894.1:c.560-2886del (ZDHHC24)	XP_011543196.1:n.560-2886del
XM_011544895.1:c.560-5616del (ZDHHC24)	XP_011543197.1:n.560-5616del
XR_949860.1:n.616-2886del (ZDHHC24)
NM_001348571.1:c.560-404del (ZDHHC24)	NP_001335500.1:n.560-404del
XM_005273874.4:c.560-2886del (ZDHHC24)	XP_005273931.1:n.560-2886del
XM_011544894.2:c.560-2886del (ZDHHC24)	XP_011543196.1:n.560-2886del
XR_001747823.2:n.741-5616del (ZDHHC24)
XR_949860.3:n.741-2886del (ZDHHC24)
NM_024649.5:c.1413del (BBS1) MANE Select	NP_078925.3:p.Glu472SerfsTer4
NM_001348571.2:c.560-404del (ZDHHC24)	NP_001335500.1:n.560-404del