Canonical Allele Identifier: CA16041531
Gene: BBS1 HGNC NCBI
ZDHHC24 HGNC NCBI

Linked Data

ClinVar Variation Id: 370965
ClinVar RCV Id: RCV000408994
dbSNP Id: rs1057516901
MyVariant Identifiers: chr11:g.66297373del (hg19) chr11:g.66529902del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66529902del , CM000673.2:g.66529902del GRCh38
NC_000011.9:g.66297373del , CM000673.1:g.66297373del GRCh37
NC_000011.8:g.66053949del NCBI36
NG_009093.1:g.24255del

Transcript Alleles

HGVS Amino-acid change
ENST00000318312.12:c.1423del (BBS1) MANE Select ENSP00000317469.7:p.Leu475Ter
ENST00000318312.11:c.1423del (BBS1) ENSP00000317469.7:p.Leu475Ter
ENST00000393994.4:c.1036del (BBS1) ENSP00000377563.2:p.Leu346Ter
ENST00000419755.3:c.1534del ENSP00000398526.3:p.Leu512Ter
ENST00000455748.6:c.1132del (BBS1) ENSP00000405764.2:p.Leu378Ter
ENST00000526760.5:c.*1130del (BBS1) ENSP00000432140.1:n.*1130del
ENST00000526986.5:c.560-413del (ZDHHC24) ENSP00000431321.1:n.560-413del
ENST00000529955.5:n.1394del (BBS1)
ENST00000534073.5:c.560-2895del (ZDHHC24) ENSP00000436503.1:n.560-2895del
ENST00000630659.2:c.*1130del (BBS1) ENSP00000486455.1:n.*1130del
NM_024649.4:c.1423del (BBS1) NP_078925.3:p.Leu475Ter
XM_005273874.3:c.560-2895del (ZDHHC24) XP_005273931.1:n.560-2895del
XM_011544891.1:c.560-413del (ZDHHC24) XP_011543193.1:n.560-413del
XM_011544894.1:c.560-2895del (ZDHHC24) XP_011543196.1:n.560-2895del
XM_011544895.1:c.560-5625del (ZDHHC24) XP_011543197.1:n.560-5625del
XR_949860.1:n.616-2895del (ZDHHC24)
NM_001348571.1:c.560-413del (ZDHHC24) NP_001335500.1:n.560-413del
XM_005273874.4:c.560-2895del (ZDHHC24) XP_005273931.1:n.560-2895del
XM_011544894.2:c.560-2895del (ZDHHC24) XP_011543196.1:n.560-2895del
XR_001747823.2:n.741-5625del (ZDHHC24)
XR_949860.3:n.741-2895del (ZDHHC24)
NM_024649.5:c.1423del (BBS1) MANE Select NP_078925.3:p.Leu475Ter
NM_001348571.2:c.560-413del (ZDHHC24) NP_001335500.1:n.560-413del
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