Canonical Allele Identifier: CA1979709877

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523628_66523629delinsAC , CM000673.2:g.66523628_66523629delinsAC	GRCh38
NC_000011.9:g.66291099_66291100delinsAC , CM000673.1:g.66291099_66291100delinsAC	GRCh37
NC_000011.8:g.66047675_66047676delinsAC	NCBI36
NG_009093.1:g.17981_17982delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000318312.12:c.951+52_951+53delinsAC (BBS1) MANE Select	ENSP00000317469.7:n.951+52_951+53delinsAC...
ENST00000318312.11:c.951+52_951+53delinsAC (BBS1)	ENSP00000317469.7:n.951+52_951+53delinsAC...
ENST00000393994.4:c.724-2495_724-2494delinsAC (BBS1)	ENSP00000377563.2:n.724-2495_724-2494deli...
ENST00000419755.3:c.1062+52_1062+53delinsAC	ENSP00000398526.3:n.1062+52_1062+53delins...
ENST00000455748.6:c.660+52_660+53delinsAC (BBS1)	ENSP00000405764.2:n.660+52_660+53delinsAC...
ENST00000526760.5:c.*658+52_*658+53delinsAC (BBS1)	ENSP00000432140.1:n.*658+52_*658+53delins...
ENST00000526986.5:c.*22-2163_*22-2162delinsGT (ZDHHC24)	ENSP00000431321.1:n.*22-2163_*22-2162deli...
ENST00000527959.1:n.95+52_95+53delinsAC (BBS1)
ENST00000529766.5:n.958+52_958+53delinsAC (BBS1)
ENST00000529895.1:n.400+52_400+53delinsAC (BBS1)
ENST00000529955.5:n.922+52_922+53delinsAC (BBS1)
ENST00000532908.5:c.*611+52_*611+53delinsAC (BBS1)	ENSP00000431866.1:n.*611+52_*611+53delins...
ENST00000534073.5:c.*143+526_*143+527delinsGT (ZDHHC24)	ENSP00000436503.1:n.*143+526_*143+527deli...
ENST00000630659.2:c.*658+52_*658+53delinsAC (BBS1)	ENSP00000486455.1:n.*658+52_*658+53delins...
NM_024649.4:c.951+52_951+53delinsAC (BBS1)	NP_078925.3:n.951+52_951+53delinsAC
XM_005273874.3:c.*22-2163_*22-2162delinsGT (ZDHHC24)	XP_005273931.1:n.*22-2163_*22-2162delinsG...
XR_949860.1:n.808+526_808+527delinsGT (ZDHHC24)
NM_001348571.1:c.*22-2163_*22-2162delinsGT (ZDHHC24)	NP_001335500.1:n.*22-2163_*22-2162delinsG...
XM_005273874.4:c.*22-2163_*22-2162delinsGT (ZDHHC24)	XP_005273931.1:n.*22-2163_*22-2162delinsG...
XR_001747823.2:n.862+526_862+527delinsGT (ZDHHC24)
XR_949860.3:n.933+526_933+527delinsGT (ZDHHC24)
NM_024649.5:c.951+52_951+53delinsAC (BBS1) MANE Select	NP_078925.3:n.951+52_951+53delinsAC
NM_001348571.2:c.*22-2163_*22-2162delinsGT (ZDHHC24)	NP_001335500.1:n.*22-2163_*22-2162delinsG...