Canonical Allele Identifier: CA2792483156
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66526785_66526786insA , CM000673.2:g.66526785_66526786insA GRCh38
NC_000011.9:g.66294256_66294257insA , CM000673.1:g.66294256_66294257insA GRCh37
NC_000011.8:g.66050832_66050833insA NCBI36
NG_009093.1:g.21138_21139insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.1317_1318insA (BBS1) MANE Select ENSP00000317469.7:p.Arg440ThrfsTer?
ENST00000318312.11:c.1317_1318insA (BBS1) ENSP00000317469.7:p.Arg440ThrfsTer?
ENST00000393994.4:c.930_931insA (BBS1) ENSP00000377563.2:p.Arg311ThrfsTer?
ENST00000419755.3:c.1428_1429insA ENSP00000398526.3:p.Arg477ThrfsTer?
ENST00000455748.6:c.1026_1027insA (BBS1) ENSP00000405764.2:p.Arg343ThrfsTer?
ENST00000526760.5:c.*1024_*1025insA (BBS1) ENSP00000432140.1:n.*1024_*1025insA
ENST00000526986.5:c.*21+150_*21+151insT (ZDHHC24) ENSP00000431321.1:n.*21+150_*21+151insT
ENST00000527959.1:n.461_462insA (BBS1)
ENST00000529766.5:n.1324_1325insA (BBS1)
ENST00000529955.5:n.1288_1289insA (BBS1)
ENST00000534073.5:c.*21+150_*21+151insT (ZDHHC24) ENSP00000436503.1:n.*21+150_*21+151insT
ENST00000630659.2:c.*1024_*1025insA (BBS1) ENSP00000486455.1:n.*1024_*1025insA
NM_024649.4:c.1317_1318insA (BBS1) NP_078925.3:p.Arg440ThrfsTer?
XM_005273874.3:c.*21+150_*21+151insT (ZDHHC24) XP_005273931.1:n.*21+150_*21+151insT
XM_011544894.1:c.*21+150_*21+151insT (ZDHHC24) XP_011543196.1:n.*21+150_*21+151insT
XM_011544895.1:c.560-2510_560-2509insT (ZDHHC24) XP_011543197.1:n.560-2510_560-2509insT
XR_949860.1:n.686+150_686+151insT (ZDHHC24)
NM_001348571.1:c.*21+150_*21+151insT (ZDHHC24) NP_001335500.1:n.*21+150_*21+151insT
XM_005273874.4:c.*21+150_*21+151insT (ZDHHC24) XP_005273931.1:n.*21+150_*21+151insT
XM_011544894.2:c.*21+150_*21+151insT (ZDHHC24) XP_011543196.1:n.*21+150_*21+151insT
XR_001747823.2:n.741-2510_741-2509insT (ZDHHC24)
XR_949860.3:n.811+150_811+151insT (ZDHHC24)
NM_024649.5:c.1317_1318insA (BBS1) MANE Select NP_078925.3:p.Arg440ThrfsTer?
NM_001348571.2:c.*21+150_*21+151insT (ZDHHC24) NP_001335500.1:n.*21+150_*21+151insT