Canonical Allele Identifier: CA1979711739

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526681_66526682delinsAC , CM000673.2:g.66526681_66526682delinsAC	GRCh38
NC_000011.9:g.66294152_66294153delinsAC , CM000673.1:g.66294152_66294153delinsAC	GRCh37
NC_000011.8:g.66050728_66050729delinsAC	NCBI36
NG_009093.1:g.21034_21035delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1213_1214delinsAC (BBS1) MANE Select	ENSP00000317469.7:p.Thr405=
ENST00000318312.11:c.1213_1214delinsAC (BBS1)	ENSP00000317469.7:p.Thr405=
ENST00000393994.4:c.826_827delinsAC (BBS1)	ENSP00000377563.2:p.Thr276=
ENST00000419755.3:c.1324_1325delinsAC	ENSP00000398526.3:p.Thr442=
ENST00000455748.6:c.922_923delinsAC (BBS1)	ENSP00000405764.2:p.Thr308=
ENST00000526760.5:c.*920_*921delinsAC (BBS1)	ENSP00000432140.1:n.*920_*921delinsAC
ENST00000526986.5:c.*21+254_*21+255delinsGT (ZDHHC24)	ENSP00000431321.1:n.*21+254_*21+255delinsGT
ENST00000527959.1:n.357_358delinsAC (BBS1)
ENST00000529766.5:n.1220_1221delinsAC (BBS1)
ENST00000529955.5:n.1184_1185delinsAC (BBS1)
ENST00000534073.5:c.*21+254_*21+255delinsGT (ZDHHC24)	ENSP00000436503.1:n.*21+254_*21+255delinsGT
ENST00000630659.2:c.*920_*921delinsAC (BBS1)	ENSP00000486455.1:n.*920_*921delinsAC
NM_024649.4:c.1213_1214delinsAC (BBS1)	NP_078925.3:p.Thr405=
XM_005273874.3:c.*21+254_*21+255delinsGT (ZDHHC24)	XP_005273931.1:n.*21+254_*21+255delinsGT
XM_011544894.1:c.*21+254_*21+255delinsGT (ZDHHC24)	XP_011543196.1:n.*21+254_*21+255delinsGT
XM_011544895.1:c.560-2406_560-2405delinsGT (ZDHHC24)	XP_011543197.1:n.560-2406_560-2405delinsGT
XR_949860.1:n.686+254_686+255delinsGT (ZDHHC24)
NM_001348571.1:c.*21+254_*21+255delinsGT (ZDHHC24)	NP_001335500.1:n.*21+254_*21+255delinsGT
XM_005273874.4:c.*21+254_*21+255delinsGT (ZDHHC24)	XP_005273931.1:n.*21+254_*21+255delinsGT
XM_011544894.2:c.*21+254_*21+255delinsGT (ZDHHC24)	XP_011543196.1:n.*21+254_*21+255delinsGT
XR_001747823.2:n.741-2406_741-2405delinsGT (ZDHHC24)
XR_949860.3:n.811+254_811+255delinsGT (ZDHHC24)
NM_024649.5:c.1213_1214delinsAC (BBS1) MANE Select	NP_078925.3:p.Thr405=
NM_001348571.2:c.*21+254_*21+255delinsGT (ZDHHC24)	NP_001335500.1:n.*21+254_*21+255delinsGT