Canonical Allele Identifier: CA2695198909

Gene: BBS1 ZDHHC24

Linked Data

• ClinVar Variation Id: 2679952
• ClinVar RCV Id: RCV003465015

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526649_66526659del , CM000673.2:g.66526649_66526659del	GRCh38
NC_000011.9:g.66294120_66294130del , CM000673.1:g.66294120_66294130del	GRCh37
NC_000011.8:g.66050696_66050706del	NCBI36
NG_009093.1:g.21002_21012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1181_1191del (BBS1)
ENST00000318312.11:c.1181_1191del (BBS1)
ENST00000393994.4:c.794_804del (BBS1)
ENST00000419755.3:c.1292_1302del
ENST00000455748.6:c.890_900del (BBS1)
ENST00000526760.5:c.*888_*898del (BBS1)
ENST00000526986.5:c.*21+278_*21+288del (ZDHHC24)	ENSP00000431321.1:n.*21+278_*21+288del
ENST00000527959.1:n.325_335del (BBS1)
ENST00000529766.5:n.1188_1198del (BBS1)
ENST00000529955.5:n.1152_1162del (BBS1)
ENST00000534073.5:c.*21+278_*21+288del (ZDHHC24)	ENSP00000436503.1:n.*21+278_*21+288del
ENST00000630659.2:c.*888_*898del (BBS1)
NM_024649.4:c.1181_1191del (BBS1)
XM_005273874.3:c.*21+278_*21+288del (ZDHHC24)	XP_005273931.1:n.*21+278_*21+288del
XM_011544894.1:c.*21+278_*21+288del (ZDHHC24)	XP_011543196.1:n.*21+278_*21+288del
XM_011544895.1:c.560-2382_560-2372del (ZDHHC24)	XP_011543197.1:n.560-2382_560-2372del
XR_949860.1:n.686+278_686+288del (ZDHHC24)
NM_001348571.1:c.*21+278_*21+288del (ZDHHC24)	NP_001335500.1:n.*21+278_*21+288del
XM_005273874.4:c.*21+278_*21+288del (ZDHHC24)	XP_005273931.1:n.*21+278_*21+288del
XM_011544894.2:c.*21+278_*21+288del (ZDHHC24)	XP_011543196.1:n.*21+278_*21+288del
XR_001747823.2:n.741-2382_741-2372del (ZDHHC24)
XR_949860.3:n.811+278_811+288del (ZDHHC24)
NM_024649.5:c.1181_1191del (BBS1)
NM_001348571.2:c.*21+278_*21+288del (ZDHHC24)	NP_001335500.1:n.*21+278_*21+288del