Canonical Allele Identifier: CA1979711704

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526670_66526671delinsTC , CM000673.2:g.66526670_66526671delinsTC	GRCh38
NC_000011.9:g.66294141_66294142delinsTC , CM000673.1:g.66294141_66294142delinsTC	GRCh37
NC_000011.8:g.66050717_66050718delinsTC	NCBI36
NG_009093.1:g.21023_21024delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1202_1203delinsTC (BBS1) MANE Select	ENSP00000317469.7:p.Ile401=
ENST00000318312.11:c.1202_1203delinsTC (BBS1)	ENSP00000317469.7:p.Ile401=
ENST00000393994.4:c.815_816delinsTC (BBS1)	ENSP00000377563.2:p.Ile272=
ENST00000419755.3:c.1313_1314delinsTC	ENSP00000398526.3:p.Ile438=
ENST00000455748.6:c.911_912delinsTC (BBS1)	ENSP00000405764.2:p.Ile304=
ENST00000526760.5:c.*909_*910delinsTC (BBS1)	ENSP00000432140.1:n.*909_*910delinsTC
ENST00000526986.5:c.*21+265_*21+266delinsGA (ZDHHC24)	ENSP00000431321.1:n.*21+265_*21+266delinsGA
ENST00000527959.1:n.346_347delinsTC (BBS1)
ENST00000529766.5:n.1209_1210delinsTC (BBS1)
ENST00000529955.5:n.1173_1174delinsTC (BBS1)
ENST00000534073.5:c.*21+265_*21+266delinsGA (ZDHHC24)	ENSP00000436503.1:n.*21+265_*21+266delinsGA
ENST00000630659.2:c.*909_*910delinsTC (BBS1)	ENSP00000486455.1:n.*909_*910delinsTC
NM_024649.4:c.1202_1203delinsTC (BBS1)	NP_078925.3:p.Ile401=
XM_005273874.3:c.*21+265_*21+266delinsGA (ZDHHC24)	XP_005273931.1:n.*21+265_*21+266delinsGA
XM_011544894.1:c.*21+265_*21+266delinsGA (ZDHHC24)	XP_011543196.1:n.*21+265_*21+266delinsGA
XM_011544895.1:c.560-2395_560-2394delinsGA (ZDHHC24)	XP_011543197.1:n.560-2395_560-2394delinsGA
XR_949860.1:n.686+265_686+266delinsGA (ZDHHC24)
NM_001348571.1:c.*21+265_*21+266delinsGA (ZDHHC24)	NP_001335500.1:n.*21+265_*21+266delinsGA
XM_005273874.4:c.*21+265_*21+266delinsGA (ZDHHC24)	XP_005273931.1:n.*21+265_*21+266delinsGA
XM_011544894.2:c.*21+265_*21+266delinsGA (ZDHHC24)	XP_011543196.1:n.*21+265_*21+266delinsGA
XR_001747823.2:n.741-2395_741-2394delinsGA (ZDHHC24)
XR_949860.3:n.811+265_811+266delinsGA (ZDHHC24)
NM_024649.5:c.1202_1203delinsTC (BBS1) MANE Select	NP_078925.3:p.Ile401=
NM_001348571.2:c.*21+265_*21+266delinsGA (ZDHHC24)	NP_001335500.1:n.*21+265_*21+266delinsGA