Canonical Allele Identifier: CA2792483484

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531100_66531105del , CM000673.2:g.66531100_66531105del	GRCh38
NC_000011.9:g.66298571_66298576del , CM000673.1:g.66298571_66298576del	GRCh37
NC_000011.8:g.66055147_66055152del	NCBI36
NG_009093.1:g.25453_25458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1608+72_1608+77del (BBS1) MANE Select	ENSP00000317469.7:n.1608+72_1608+77del
ENST00000318312.11:c.1608+72_1608+77del (BBS1)	ENSP00000317469.7:n.1608+72_1608+77del
ENST00000393994.4:c.1221+72_1221+77del (BBS1)	ENSP00000377563.2:n.1221+72_1221+77del
ENST00000419755.3:c.1719+72_1719+77del	ENSP00000398526.3:n.1719+72_1719+77del
ENST00000455748.6:c.1317+72_1317+77del (BBS1)	ENSP00000405764.2:n.1317+72_1317+77del
ENST00000526760.5:c.*1315+72_*1315+77del (BBS1)	ENSP00000432140.1:n.*1315+72_*1315+77del
ENST00000526986.5:c.560-1617_560-1612del (ZDHHC24)	ENSP00000431321.1:n.560-1617_560-1612del
ENST00000529955.5:n.1579+72_1579+77del (BBS1)
ENST00000534073.5:c.560-4099_560-4094del (ZDHHC24)	ENSP00000436503.1:n.560-4099_560-4094del
ENST00000630659.2:c.*1315+72_*1315+77del (BBS1)	ENSP00000486455.1:n.*1315+72_*1315+77del
NM_024649.4:c.1608+72_1608+77del (BBS1)	NP_078925.3:n.1608+72_1608+77del
XM_005273874.3:c.560-4099_560-4094del (ZDHHC24)	XP_005273931.1:n.560-4099_560-4094del
XM_011544891.1:c.560-1617_560-1612del (ZDHHC24)	XP_011543193.1:n.560-1617_560-1612del
XM_011544894.1:c.560-4099_560-4094del (ZDHHC24)	XP_011543196.1:n.560-4099_560-4094del
XM_011544895.1:c.560-6829_560-6824del (ZDHHC24)	XP_011543197.1:n.560-6829_560-6824del
XR_949860.1:n.616-4099_616-4094del (ZDHHC24)
NM_001348571.1:c.560-1617_560-1612del (ZDHHC24)	NP_001335500.1:n.560-1617_560-1612del
XM_005273874.4:c.560-4099_560-4094del (ZDHHC24)	XP_005273931.1:n.560-4099_560-4094del
XM_011544894.2:c.560-4099_560-4094del (ZDHHC24)	XP_011543196.1:n.560-4099_560-4094del
XR_001747823.2:n.741-6829_741-6824del (ZDHHC24)
XR_949860.3:n.741-4099_741-4094del (ZDHHC24)
NM_024649.5:c.1608+72_1608+77del (BBS1) MANE Select	NP_078925.3:n.1608+72_1608+77del
NM_001348571.2:c.560-1617_560-1612del (ZDHHC24)	NP_001335500.1:n.560-1617_560-1612del