Canonical Allele Identifier: CA1979715601
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66529900_66529901delinsGC , CM000673.2:g.66529900_66529901delinsGC GRCh38
NC_000011.9:g.66297371_66297372delinsGC , CM000673.1:g.66297371_66297372delinsGC GRCh37
NC_000011.8:g.66053947_66053948delinsGC NCBI36
NG_009093.1:g.24253_24254delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000318312.12:c.1421_1422delinsGC (BBS1) MANE Select ENSP00000317469.7:p.Ser474=
ENST00000318312.11:c.1421_1422delinsGC (BBS1) ENSP00000317469.7:p.Ser474=
ENST00000393994.4:c.1034_1035delinsGC (BBS1) ENSP00000377563.2:p.Ser345=
ENST00000419755.3:c.1532_1533delinsGC ENSP00000398526.3:p.Ser511=
ENST00000455748.6:c.1130_1131delinsGC (BBS1) ENSP00000405764.2:p.Ser377=
ENST00000526760.5:c.*1128_*1129delinsGC (BBS1) ENSP00000432140.1:n.*1128_*1129delinsGC
ENST00000526986.5:c.560-413_560-412delinsGC (ZDHHC24) ENSP00000431321.1:n.560-413_560-412delins...
ENST00000529955.5:n.1392_1393delinsGC (BBS1)
ENST00000534073.5:c.560-2895_560-2894delinsGC (ZDHHC24) ENSP00000436503.1:n.560-2895_560-2894deli...
ENST00000630659.2:c.*1128_*1129delinsGC (BBS1) ENSP00000486455.1:n.*1128_*1129delinsGC
NM_024649.4:c.1421_1422delinsGC (BBS1) NP_078925.3:p.Ser474=
XM_005273874.3:c.560-2895_560-2894delinsGC (ZDHHC24) XP_005273931.1:n.560-2895_560-2894delinsG...
XM_011544891.1:c.560-413_560-412delinsGC (ZDHHC24) XP_011543193.1:n.560-413_560-412delinsGC
XM_011544894.1:c.560-2895_560-2894delinsGC (ZDHHC24) XP_011543196.1:n.560-2895_560-2894delinsG...
XM_011544895.1:c.560-5625_560-5624delinsGC (ZDHHC24) XP_011543197.1:n.560-5625_560-5624delinsG...
XR_949860.1:n.616-2895_616-2894delinsGC (ZDHHC24)
NM_001348571.1:c.560-413_560-412delinsGC (ZDHHC24) NP_001335500.1:n.560-413_560-412delinsGC
XM_005273874.4:c.560-2895_560-2894delinsGC (ZDHHC24) XP_005273931.1:n.560-2895_560-2894delinsG...
XM_011544894.2:c.560-2895_560-2894delinsGC (ZDHHC24) XP_011543196.1:n.560-2895_560-2894delinsG...
XR_001747823.2:n.741-5625_741-5624delinsGC (ZDHHC24)
XR_949860.3:n.741-2895_741-2894delinsGC (ZDHHC24)
NM_024649.5:c.1421_1422delinsGC (BBS1) MANE Select NP_078925.3:p.Ser474=
NM_001348571.2:c.560-413_560-412delinsGC (ZDHHC24) NP_001335500.1:n.560-413_560-412delinsGC