Canonical Allele Identifier: CA1979711832
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66526709_66526710delinsAG , CM000673.2:g.66526709_66526710delinsAG GRCh38
NC_000011.9:g.66294180_66294181delinsAG , CM000673.1:g.66294180_66294181delinsAG GRCh37
NC_000011.8:g.66050756_66050757delinsAG NCBI36
NG_009093.1:g.21062_21063delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.1241_1242delinsAG (BBS1) MANE Select ENSP00000317469.7:p.Glu414=
ENST00000318312.11:c.1241_1242delinsAG (BBS1) ENSP00000317469.7:p.Glu414=
ENST00000393994.4:c.854_855delinsAG (BBS1) ENSP00000377563.2:p.Glu285=
ENST00000419755.3:c.1352_1353delinsAG ENSP00000398526.3:p.Glu451=
ENST00000455748.6:c.950_951delinsAG (BBS1) ENSP00000405764.2:p.Glu317=
ENST00000526760.5:c.*948_*949delinsAG (BBS1) ENSP00000432140.1:n.*948_*949delinsAG
ENST00000526986.5:c.*21+226_*21+227delinsCT (ZDHHC24) ENSP00000431321.1:n.*21+226_*21+227delinsCT
ENST00000527959.1:n.385_386delinsAG (BBS1)
ENST00000529766.5:n.1248_1249delinsAG (BBS1)
ENST00000529955.5:n.1212_1213delinsAG (BBS1)
ENST00000534073.5:c.*21+226_*21+227delinsCT (ZDHHC24) ENSP00000436503.1:n.*21+226_*21+227delinsCT
ENST00000630659.2:c.*948_*949delinsAG (BBS1) ENSP00000486455.1:n.*948_*949delinsAG
NM_024649.4:c.1241_1242delinsAG (BBS1) NP_078925.3:p.Glu414=
XM_005273874.3:c.*21+226_*21+227delinsCT (ZDHHC24) XP_005273931.1:n.*21+226_*21+227delinsCT
XM_011544894.1:c.*21+226_*21+227delinsCT (ZDHHC24) XP_011543196.1:n.*21+226_*21+227delinsCT
XM_011544895.1:c.560-2434_560-2433delinsCT (ZDHHC24) XP_011543197.1:n.560-2434_560-2433delinsCT
XR_949860.1:n.686+226_686+227delinsCT (ZDHHC24)
NM_001348571.1:c.*21+226_*21+227delinsCT (ZDHHC24) NP_001335500.1:n.*21+226_*21+227delinsCT
XM_005273874.4:c.*21+226_*21+227delinsCT (ZDHHC24) XP_005273931.1:n.*21+226_*21+227delinsCT
XM_011544894.2:c.*21+226_*21+227delinsCT (ZDHHC24) XP_011543196.1:n.*21+226_*21+227delinsCT
XR_001747823.2:n.741-2434_741-2433delinsCT (ZDHHC24)
XR_949860.3:n.811+226_811+227delinsCT (ZDHHC24)
NM_024649.5:c.1241_1242delinsAG (BBS1) MANE Select NP_078925.3:p.Glu414=
NM_001348571.2:c.*21+226_*21+227delinsCT (ZDHHC24) NP_001335500.1:n.*21+226_*21+227delinsCT