Canonical Allele Identifier: CA2614500808

Gene: BBS1 ZDHHC24

Linked Data

• gnomAD v4: 11-66523538-GGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAGGTGCAGCCCCCAGCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66523545_66523598del , CM000673.2:g.66523545_66523598del	GRCh38
NC_000011.9:g.66291016_66291069del , CM000673.1:g.66291016_66291069del	GRCh37
NC_000011.8:g.66047592_66047645del	NCBI36
NG_009093.1:g.17898_17951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.920_951+22del (BBS1)
ENST00000318312.11:c.920_951+22del (BBS1)
ENST00000393994.4:c.724-2578_724-2525del (BBS1)	ENSP00000377563.2:n.724-2578_724-2525del
ENST00000419755.3:c.1031_1062+22del
ENST00000455748.6:c.629_660+22del (BBS1)
ENST00000526760.5:c.*627_*658+22del (BBS1)
ENST00000526986.5:c.*22-2126_*22-2073del (ZDHHC24)	ENSP00000431321.1:n.*22-2126_*22-2073del
ENST00000527959.1:n.64_95+22del (BBS1)
ENST00000529766.5:n.927_958+22del (BBS1)
ENST00000529895.1:n.369_400+22del (BBS1)
ENST00000529955.5:n.891_922+22del (BBS1)
ENST00000532908.5:c.*580_*611+22del (BBS1)
ENST00000534073.5:c.*143+563_*143+616del (ZDHHC24)	ENSP00000436503.1:n.*143+563_*143+616del
ENST00000630659.2:c.*627_*658+22del (BBS1)
NM_024649.4:c.920_951+22del (BBS1)
XM_005273874.3:c.*22-2126_*22-2073del (ZDHHC24)	XP_005273931.1:n.*22-2126_*22-2073del
XR_949860.1:n.808+563_808+616del (ZDHHC24)
NM_001348571.1:c.*22-2126_*22-2073del (ZDHHC24)	NP_001335500.1:n.*22-2126_*22-2073del
XM_005273874.4:c.*22-2126_*22-2073del (ZDHHC24)	XP_005273931.1:n.*22-2126_*22-2073del
XR_001747823.2:n.862+563_862+616del (ZDHHC24)
XR_949860.3:n.933+563_933+616del (ZDHHC24)
NM_024649.5:c.920_951+22del (BBS1)
NM_001348571.2:c.*22-2126_*22-2073del (ZDHHC24)	NP_001335500.1:n.*22-2126_*22-2073del