Canonical Allele Identifier: CA1139662039

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531661del , CM000673.2:g.66531661del	GRCh38
NC_000011.9:g.66299132del , CM000673.1:g.66299132del	GRCh37
NC_000011.8:g.66055708del	NCBI36
NG_009093.1:g.26014del

Transcript Alleles

HGVS	Amino-acid Change
NM_024649.5:c.1614del (BBS1) MANE Select	NP_078925.3:p.Leu539CysfsTer?
ENST00000318312.12:c.1614del (BBS1) MANE Select	ENSP00000317469.7:p.Leu539CysfsTer?
NM_001348571.1:c.560-2171del (ZDHHC24)	NP_001335500.1:n.560-2171del
NM_001348571.2:c.560-2171del (ZDHHC24)	NP_001335500.1:n.560-2171del
NM_024649.4:c.1614del (BBS1)	NP_078925.3:p.Leu539CysfsTer?
ENST00000318312.11:c.1614del (BBS1)	ENSP00000317469.7:p.Leu539CysfsTer?
ENST00000393994.4:c.1227del (BBS1)	ENSP00000377563.2:p.Leu410CysfsTer28
ENST00000419755.3:c.1725del	ENSP00000398526.3:p.Leu576CysfsTer?
ENST00000455748.6:c.1323del (BBS1)	ENSP00000405764.2:p.Leu442CysfsTer?
ENST00000526760.5:c.*1321del (BBS1)	ENSP00000432140.1:n.*1321del
ENST00000526986.5:c.560-2171del (ZDHHC24)	ENSP00000431321.1:n.560-2171del
ENST00000529955.5:n.1585del (BBS1)
ENST00000534073.5:c.560-4653del (ZDHHC24)	ENSP00000436503.1:n.560-4653del
ENST00000630659.2:c.*1321del (BBS1)	ENSP00000486455.1:n.*1321del
XM_005273874.3:c.560-4653del (ZDHHC24)	XP_005273931.1:n.560-4653del
XM_005273874.4:c.560-4653del (ZDHHC24)	XP_005273931.1:n.560-4653del
XM_011544891.1:c.560-2171del (ZDHHC24)	XP_011543193.1:n.560-2171del
XM_011544894.1:c.560-4653del (ZDHHC24)	XP_011543196.1:n.560-4653del
XM_011544894.2:c.560-4653del (ZDHHC24)	XP_011543196.1:n.560-4653del
XM_011544895.1:c.560-7383del (ZDHHC24)	XP_011543197.1:n.560-7383del
XR_001747823.2:n.741-7383del (ZDHHC24)
XR_949860.1:n.616-4653del (ZDHHC24)
XR_949860.3:n.741-4653del (ZDHHC24)