Canonical Allele Identifier: CA1979717906

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531626_66531627delinsGT , CM000673.2:g.66531626_66531627delinsGT	GRCh38
NC_000011.9:g.66299097_66299098delinsGT , CM000673.1:g.66299097_66299098delinsGT	GRCh37
NC_000011.8:g.66055673_66055674delinsGT	NCBI36
NG_009093.1:g.25979_25980delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.1609-30_1609-29delinsGT (BBS1) MANE Select	ENSP00000317469.7:n.1609-30_1609-29delins...
ENST00000318312.11:c.1609-30_1609-29delinsGT (BBS1)	ENSP00000317469.7:n.1609-30_1609-29delins...
ENST00000393994.4:c.1222-30_1222-29delinsGT (BBS1)	ENSP00000377563.2:n.1222-30_1222-29delins...
ENST00000419755.3:c.1720-30_1720-29delinsGT	ENSP00000398526.3:n.1720-30_1720-29delins...
ENST00000455748.6:c.1318-30_1318-29delinsGT (BBS1)	ENSP00000405764.2:n.1318-30_1318-29delins...
ENST00000526760.5:c.*1316-30_*1316-29delinsGT (BBS1)	ENSP00000432140.1:n.*1316-30_*1316-29deli...
ENST00000526986.5:c.560-2139_560-2138delinsAC (ZDHHC24)	ENSP00000431321.1:n.560-2139_560-2138deli...
ENST00000529955.5:n.1580-30_1580-29delinsGT (BBS1)
ENST00000534073.5:c.560-4621_560-4620delinsAC (ZDHHC24)	ENSP00000436503.1:n.560-4621_560-4620deli...
ENST00000630659.2:c.*1316-30_*1316-29delinsGT (BBS1)	ENSP00000486455.1:n.*1316-30_*1316-29deli...
NM_024649.4:c.1609-30_1609-29delinsGT (BBS1)	NP_078925.3:n.1609-30_1609-29delinsGT
XM_005273874.3:c.560-4621_560-4620delinsAC (ZDHHC24)	XP_005273931.1:n.560-4621_560-4620delinsA...
XM_011544891.1:c.560-2139_560-2138delinsAC (ZDHHC24)	XP_011543193.1:n.560-2139_560-2138delinsA...
XM_011544894.1:c.560-4621_560-4620delinsAC (ZDHHC24)	XP_011543196.1:n.560-4621_560-4620delinsA...
XM_011544895.1:c.560-7351_560-7350delinsAC (ZDHHC24)	XP_011543197.1:n.560-7351_560-7350delinsA...
XR_949860.1:n.616-4621_616-4620delinsAC (ZDHHC24)
NM_001348571.1:c.560-2139_560-2138delinsAC (ZDHHC24)	NP_001335500.1:n.560-2139_560-2138delinsA...
XM_005273874.4:c.560-4621_560-4620delinsAC (ZDHHC24)	XP_005273931.1:n.560-4621_560-4620delinsA...
XM_011544894.2:c.560-4621_560-4620delinsAC (ZDHHC24)	XP_011543196.1:n.560-4621_560-4620delinsA...
XR_001747823.2:n.741-7351_741-7350delinsAC (ZDHHC24)
XR_949860.3:n.741-4621_741-4620delinsAC (ZDHHC24)
NM_024649.5:c.1609-30_1609-29delinsGT (BBS1) MANE Select	NP_078925.3:n.1609-30_1609-29delinsGT
NM_001348571.2:c.560-2139_560-2138delinsAC (ZDHHC24)	NP_001335500.1:n.560-2139_560-2138delinsA...