Canonical Allele Identifier: CA938984135
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66528923_66528924del , CM000673.2:g.66528923_66528924del GRCh38
NC_000011.9:g.66296394_66296395del , CM000673.1:g.66296394_66296395del GRCh37
NC_000011.8:g.66052970_66052971del NCBI36
NG_009093.1:g.23276_23277del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318312.12:c.1340-896_1340-895del (BBS1) MANE Select ENSP00000317469.7:n.1340-896_1340-895del
ENST00000318312.11:c.1340-896_1340-895del (BBS1) ENSP00000317469.7:n.1340-896_1340-895del
ENST00000393994.4:c.953-896_953-895del (BBS1) ENSP00000377563.2:n.953-896_953-895del
ENST00000419755.3:c.1451-896_1451-895del ENSP00000398526.3:n.1451-896_1451-895del
ENST00000455748.6:c.1049-896_1049-895del (BBS1) ENSP00000405764.2:n.1049-896_1049-895del
ENST00000526760.5:c.*1047-896_*1047-895del (BBS1) ENSP00000432140.1:n.*1047-896_*1047-895del
ENST00000526986.5:c.736+389_736+390del (ZDHHC24) ENSP00000431321.1:n.736+389_736+390del
ENST00000529955.5:n.1311-896_1311-895del (BBS1)
ENST00000534073.5:c.560-1917_560-1916del (ZDHHC24) ENSP00000436503.1:n.560-1917_560-1916del
ENST00000630659.2:c.*1047-896_*1047-895del (BBS1) ENSP00000486455.1:n.*1047-896_*1047-895del
NM_024649.4:c.1340-896_1340-895del (BBS1) NP_078925.3:n.1340-896_1340-895del
XM_005273874.3:c.560-1917_560-1916del (ZDHHC24) XP_005273931.1:n.560-1917_560-1916del
XM_011544894.1:c.560-1917_560-1916del (ZDHHC24) XP_011543196.1:n.560-1917_560-1916del
XM_011544895.1:c.560-4647_560-4646del (ZDHHC24) XP_011543197.1:n.560-4647_560-4646del
XR_949860.1:n.616-1917_616-1916del (ZDHHC24)
NM_001348571.1:c.736+389_736+390del (ZDHHC24) NP_001335500.1:n.736+389_736+390del
XM_005273874.4:c.560-1917_560-1916del (ZDHHC24) XP_005273931.1:n.560-1917_560-1916del
XM_011544894.2:c.560-1917_560-1916del (ZDHHC24) XP_011543196.1:n.560-1917_560-1916del
XR_001747823.2:n.741-4647_741-4646del (ZDHHC24)
XR_949860.3:n.741-1917_741-1916del (ZDHHC24)
NM_024649.5:c.1340-896_1340-895del (BBS1) MANE Select NP_078925.3:n.1340-896_1340-895del
NM_001348571.2:c.736+389_736+390del (ZDHHC24) NP_001335500.1:n.736+389_736+390del