Canonical Allele Identifier: CA2695214874
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66529910_66529926del , CM000673.2:g.66529910_66529926del GRCh38
NC_000011.9:g.66297381_66297397del , CM000673.1:g.66297381_66297397del GRCh37
NC_000011.8:g.66053957_66053973del NCBI36
NG_009093.1:g.24263_24279del

Transcript Alleles

HGVS Amino-acid change
ENST00000318312.12:c.1431_1447del (BBS1) MANE Select ENSP00000317469.7:p.Leu478ArgfsTer17
ENST00000318312.11:c.1431_1447del (BBS1) ENSP00000317469.7:p.Leu478ArgfsTer17
ENST00000393994.4:c.1044_1060del (BBS1) ENSP00000377563.2:p.Leu349ArgfsTer17
ENST00000419755.3:c.1542_1558del ENSP00000398526.3:p.Leu515ArgfsTer17
ENST00000455748.6:c.1140_1156del (BBS1) ENSP00000405764.2:p.Leu381ArgfsTer17
ENST00000526760.5:c.*1138_*1154del (BBS1) ENSP00000432140.1:n.*1138_*1154del
ENST00000526986.5:c.560-433_560-417del (ZDHHC24) ENSP00000431321.1:n.560-433_560-417del
ENST00000529955.5:n.1402_1418del (BBS1)
ENST00000534073.5:c.560-2915_560-2899del (ZDHHC24) ENSP00000436503.1:n.560-2915_560-2899del
ENST00000630659.2:c.*1138_*1154del (BBS1) ENSP00000486455.1:n.*1138_*1154del
NM_024649.4:c.1431_1447del (BBS1) NP_078925.3:p.Leu478ArgfsTer17
XM_005273874.3:c.560-2915_560-2899del (ZDHHC24) XP_005273931.1:n.560-2915_560-2899del
XM_011544891.1:c.560-433_560-417del (ZDHHC24) XP_011543193.1:n.560-433_560-417del
XM_011544894.1:c.560-2915_560-2899del (ZDHHC24) XP_011543196.1:n.560-2915_560-2899del
XM_011544895.1:c.560-5645_560-5629del (ZDHHC24) XP_011543197.1:n.560-5645_560-5629del
XR_949860.1:n.616-2915_616-2899del (ZDHHC24)
NM_001348571.1:c.560-433_560-417del (ZDHHC24) NP_001335500.1:n.560-433_560-417del
XM_005273874.4:c.560-2915_560-2899del (ZDHHC24) XP_005273931.1:n.560-2915_560-2899del
XM_011544894.2:c.560-2915_560-2899del (ZDHHC24) XP_011543196.1:n.560-2915_560-2899del
XR_001747823.2:n.741-5645_741-5629del (ZDHHC24)
XR_949860.3:n.741-2915_741-2899del (ZDHHC24)
NM_024649.5:c.1431_1447del (BBS1) MANE Select NP_078925.3:p.Leu478ArgfsTer17
NM_001348571.2:c.560-433_560-417del (ZDHHC24) NP_001335500.1:n.560-433_560-417del