Canonical Allele Identifier: CA1979717908

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66531630_66531634delinsCCTTA , CM000673.2:g.66531630_66531634delinsCCTTA	GRCh38
NC_000011.9:g.66299101_66299105delinsCCTTA , CM000673.1:g.66299101_66299105delinsCCTTA	GRCh37
NC_000011.8:g.66055677_66055681delinsCCTTA	NCBI36
NG_009093.1:g.25983_25987delinsCCTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1609-26_1609-22delinsCCTTA (BBS1) MANE Select	ENSP00000317469.7:n.1609-26_1609-22delinsCCTTA
ENST00000318312.11:c.1609-26_1609-22delinsCCTTA (BBS1)	ENSP00000317469.7:n.1609-26_1609-22delinsCCTTA
ENST00000393994.4:c.1222-26_1222-22delinsCCTTA (BBS1)	ENSP00000377563.2:n.1222-26_1222-22delinsCCTTA
ENST00000419755.3:c.1720-26_1720-22delinsCCTTA	ENSP00000398526.3:n.1720-26_1720-22delinsCCTTA
ENST00000455748.6:c.1318-26_1318-22delinsCCTTA (BBS1)	ENSP00000405764.2:n.1318-26_1318-22delinsCCTTA
ENST00000526760.5:c.*1316-26_*1316-22delinsCCTTA (BBS1)	ENSP00000432140.1:n.*1316-26_*1316-22delinsCCTTA
ENST00000526986.5:c.560-2146_560-2142delinsTAAGG (ZDHHC24)	ENSP00000431321.1:n.560-2146_560-2142delinsTAAGG
ENST00000529955.5:n.1580-26_1580-22delinsCCTTA (BBS1)
ENST00000534073.5:c.560-4628_560-4624delinsTAAGG (ZDHHC24)	ENSP00000436503.1:n.560-4628_560-4624delinsTAAGG
ENST00000630659.2:c.*1316-26_*1316-22delinsCCTTA (BBS1)	ENSP00000486455.1:n.*1316-26_*1316-22delinsCCTTA
NM_024649.4:c.1609-26_1609-22delinsCCTTA (BBS1)	NP_078925.3:n.1609-26_1609-22delinsCCTTA
XM_005273874.3:c.560-4628_560-4624delinsTAAGG (ZDHHC24)	XP_005273931.1:n.560-4628_560-4624delinsTAAGG
XM_011544891.1:c.560-2146_560-2142delinsTAAGG (ZDHHC24)	XP_011543193.1:n.560-2146_560-2142delinsTAAGG
XM_011544894.1:c.560-4628_560-4624delinsTAAGG (ZDHHC24)	XP_011543196.1:n.560-4628_560-4624delinsTAAGG
XM_011544895.1:c.560-7358_560-7354delinsTAAGG (ZDHHC24)	XP_011543197.1:n.560-7358_560-7354delinsTAAGG
XR_949860.1:n.616-4628_616-4624delinsTAAGG (ZDHHC24)
NM_001348571.1:c.560-2146_560-2142delinsTAAGG (ZDHHC24)	NP_001335500.1:n.560-2146_560-2142delinsTAAGG
XM_005273874.4:c.560-4628_560-4624delinsTAAGG (ZDHHC24)	XP_005273931.1:n.560-4628_560-4624delinsTAAGG
XM_011544894.2:c.560-4628_560-4624delinsTAAGG (ZDHHC24)	XP_011543196.1:n.560-4628_560-4624delinsTAAGG
XR_001747823.2:n.741-7358_741-7354delinsTAAGG (ZDHHC24)
XR_949860.3:n.741-4628_741-4624delinsTAAGG (ZDHHC24)
NM_024649.5:c.1609-26_1609-22delinsCCTTA (BBS1) MANE Select	NP_078925.3:n.1609-26_1609-22delinsCCTTA
NM_001348571.2:c.560-2146_560-2142delinsTAAGG (ZDHHC24)	NP_001335500.1:n.560-2146_560-2142delinsTAAGG