Canonical Allele Identifier: CA2838419314

Gene: BBS1 ZDHHC24

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66529890dup , CM000673.2:g.66529890dup	GRCh38
NC_000011.9:g.66297361dup , CM000673.1:g.66297361dup	GRCh37
NC_000011.8:g.66053937dup	NCBI36
NG_009093.1:g.24243dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1411dup (BBS1) MANE Select	ENSP00000317469.7:p.Leu471ProfsTer30
ENST00000318312.11:c.1411dup (BBS1)	ENSP00000317469.7:p.Leu471ProfsTer30
ENST00000393994.4:c.1024dup (BBS1)	ENSP00000377563.2:p.Leu342ProfsTer30
ENST00000419755.3:c.1522dup	ENSP00000398526.3:p.Leu508ProfsTer30
ENST00000455748.6:c.1120dup (BBS1)	ENSP00000405764.2:p.Leu374ProfsTer30
ENST00000526760.5:c.*1118dup (BBS1)	ENSP00000432140.1:n.*1118dup
ENST00000526986.5:c.560-400dup (ZDHHC24)	ENSP00000431321.1:n.560-400dup
ENST00000529955.5:n.1382dup (BBS1)
ENST00000534073.5:c.560-2882dup (ZDHHC24)	ENSP00000436503.1:n.560-2882dup
ENST00000630659.2:c.*1118dup (BBS1)	ENSP00000486455.1:n.*1118dup
NM_024649.4:c.1411dup (BBS1)	NP_078925.3:p.Leu471ProfsTer30
XM_005273874.3:c.560-2882dup (ZDHHC24)	XP_005273931.1:n.560-2882dup
XM_011544891.1:c.560-400dup (ZDHHC24)	XP_011543193.1:n.560-400dup
XM_011544894.1:c.560-2882dup (ZDHHC24)	XP_011543196.1:n.560-2882dup
XM_011544895.1:c.560-5612dup (ZDHHC24)	XP_011543197.1:n.560-5612dup
XR_949860.1:n.616-2882dup (ZDHHC24)
NM_001348571.1:c.560-400dup (ZDHHC24)	NP_001335500.1:n.560-400dup
XM_005273874.4:c.560-2882dup (ZDHHC24)	XP_005273931.1:n.560-2882dup
XM_011544894.2:c.560-2882dup (ZDHHC24)	XP_011543196.1:n.560-2882dup
XR_001747823.2:n.741-5612dup (ZDHHC24)
XR_949860.3:n.741-2882dup (ZDHHC24)
NM_024649.5:c.1411dup (BBS1) MANE Select	NP_078925.3:p.Leu471ProfsTer30
NM_001348571.2:c.560-400dup (ZDHHC24)	NP_001335500.1:n.560-400dup