Canonical Allele Identifier: CA2614503602

Gene: BBS1 ZDHHC24

Linked Data

• gnomAD v4: 11-66526865-A-AGCTGGGGGAATGCTGCCCAGCCTCCCTGTGCACTGGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526867_66526905dup , CM000673.2:g.66526867_66526905dup	GRCh38
NC_000011.9:g.66294338_66294376dup , CM000673.1:g.66294338_66294376dup	GRCh37
NC_000011.8:g.66050914_66050952dup	NCBI36
NG_009093.1:g.21220_21258dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1339+60_1339+98dup (BBS1) MANE Select	ENSP00000317469.7:n.1339+60_1339+98dup
ENST00000318312.11:c.1339+60_1339+98dup (BBS1)	ENSP00000317469.7:n.1339+60_1339+98dup
ENST00000393994.4:c.952+60_952+98dup (BBS1)	ENSP00000377563.2:n.952+60_952+98dup
ENST00000419755.3:c.1450+60_1450+98dup	ENSP00000398526.3:n.1450+60_1450+98dup
ENST00000455748.6:c.1048+60_1048+98dup (BBS1)	ENSP00000405764.2:n.1048+60_1048+98dup
ENST00000526760.5:c.*1046+60_*1046+98dup (BBS1)	ENSP00000432140.1:n.*1046+60_*1046+98dup
ENST00000526986.5:c.*21+32_*21+70dup (ZDHHC24)	ENSP00000431321.1:n.*21+32_*21+70dup
ENST00000527959.1:n.543_581dup (BBS1)
ENST00000529766.5:n.1406_1444dup (BBS1)
ENST00000529955.5:n.1310+60_1310+98dup (BBS1)
ENST00000534073.5:c.*21+32_*21+70dup (ZDHHC24)	ENSP00000436503.1:n.*21+32_*21+70dup
ENST00000630659.2:c.*1046+60_*1046+98dup (BBS1)	ENSP00000486455.1:n.*1046+60_*1046+98dup
NM_024649.4:c.1339+60_1339+98dup (BBS1)	NP_078925.3:n.1339+60_1339+98dup
XM_005273874.3:c.*21+32_*21+70dup (ZDHHC24)	XP_005273931.1:n.*21+32_*21+70dup
XM_011544894.1:c.*21+32_*21+70dup (ZDHHC24)	XP_011543196.1:n.*21+32_*21+70dup
XM_011544895.1:c.560-2628_560-2590dup (ZDHHC24)	XP_011543197.1:n.560-2628_560-2590dup
XR_949860.1:n.686+32_686+70dup (ZDHHC24)
NM_001348571.1:c.*21+32_*21+70dup (ZDHHC24)	NP_001335500.1:n.*21+32_*21+70dup
XM_005273874.4:c.*21+32_*21+70dup (ZDHHC24)	XP_005273931.1:n.*21+32_*21+70dup
XM_011544894.2:c.*21+32_*21+70dup (ZDHHC24)	XP_011543196.1:n.*21+32_*21+70dup
XR_001747823.2:n.741-2628_741-2590dup (ZDHHC24)
XR_949860.3:n.811+32_811+70dup (ZDHHC24)
NM_024649.5:c.1339+60_1339+98dup (BBS1) MANE Select	NP_078925.3:n.1339+60_1339+98dup
NM_001348571.2:c.*21+32_*21+70dup (ZDHHC24)	NP_001335500.1:n.*21+32_*21+70dup