Canonical Allele Identifier: CA2792483499

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531111_66531112insA , CM000673.2:g.66531111_66531112insA	GRCh38
NC_000011.9:g.66298582_66298583insA , CM000673.1:g.66298582_66298583insA	GRCh37
NC_000011.8:g.66055158_66055159insA	NCBI36
NG_009093.1:g.25464_25465insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1608+83_1608+84insA (BBS1) MANE Select	ENSP00000317469.7:n.1608+83_1608+84insA
ENST00000318312.11:c.1608+83_1608+84insA (BBS1)	ENSP00000317469.7:n.1608+83_1608+84insA
ENST00000393994.4:c.1221+83_1221+84insA (BBS1)	ENSP00000377563.2:n.1221+83_1221+84insA
ENST00000419755.3:c.1719+83_1719+84insA	ENSP00000398526.3:n.1719+83_1719+84insA
ENST00000455748.6:c.1317+83_1317+84insA (BBS1)	ENSP00000405764.2:n.1317+83_1317+84insA
ENST00000526760.5:c.*1315+83_*1315+84insA (BBS1)	ENSP00000432140.1:n.*1315+83_*1315+84insA
ENST00000526986.5:c.560-1624_560-1623insT (ZDHHC24)	ENSP00000431321.1:n.560-1624_560-1623insT
ENST00000529955.5:n.1579+83_1579+84insA (BBS1)
ENST00000534073.5:c.560-4106_560-4105insT (ZDHHC24)	ENSP00000436503.1:n.560-4106_560-4105insT
ENST00000630659.2:c.*1315+83_*1315+84insA (BBS1)	ENSP00000486455.1:n.*1315+83_*1315+84insA
NM_024649.4:c.1608+83_1608+84insA (BBS1)	NP_078925.3:n.1608+83_1608+84insA
XM_005273874.3:c.560-4106_560-4105insT (ZDHHC24)	XP_005273931.1:n.560-4106_560-4105insT
XM_011544891.1:c.560-1624_560-1623insT (ZDHHC24)	XP_011543193.1:n.560-1624_560-1623insT
XM_011544894.1:c.560-4106_560-4105insT (ZDHHC24)	XP_011543196.1:n.560-4106_560-4105insT
XM_011544895.1:c.560-6836_560-6835insT (ZDHHC24)	XP_011543197.1:n.560-6836_560-6835insT
XR_949860.1:n.616-4106_616-4105insT (ZDHHC24)
NM_001348571.1:c.560-1624_560-1623insT (ZDHHC24)	NP_001335500.1:n.560-1624_560-1623insT
XM_005273874.4:c.560-4106_560-4105insT (ZDHHC24)	XP_005273931.1:n.560-4106_560-4105insT
XM_011544894.2:c.560-4106_560-4105insT (ZDHHC24)	XP_011543196.1:n.560-4106_560-4105insT
XR_001747823.2:n.741-6836_741-6835insT (ZDHHC24)
XR_949860.3:n.741-4106_741-4105insT (ZDHHC24)
NM_024649.5:c.1608+83_1608+84insA (BBS1) MANE Select	NP_078925.3:n.1608+83_1608+84insA
NM_001348571.2:c.560-1624_560-1623insT (ZDHHC24)	NP_001335500.1:n.560-1624_560-1623insT