Canonical Allele Identifier: CA2614503320

Gene: BBS1 ZDHHC24

Linked Data

• gnomAD v4: 11-66526685-C-CTCAATGGTGCCCAGGCTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66526685_66526686insTCAATGGTGCCCAGGCTGG , CM000673.2:g.66526685_66526686insTCAATGGTGCCCAGGCTGG	GRCh38
NC_000011.9:g.66294156_66294157insTCAATGGTGCCCAGGCTGG , CM000673.1:g.66294156_66294157insTCAATGGTGCCCAGGCTGG	GRCh37
NC_000011.8:g.66050732_66050733insTCAATGGTGCCCAGGCTGG	NCBI36
NG_009093.1:g.21038_21039insTCAATGGTGCCCAGGCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.1217_1218insTCAATGGTGCCCAGGCTGG (BBS1) MANE Select	ENSP00000317469.7:p.Val407GlnfsTer14
ENST00000318312.11:c.1217_1218insTCAATGGTGCCCAGGCTGG (BBS1)	ENSP00000317469.7:p.Val407GlnfsTer14
ENST00000393994.4:c.830_831insTCAATGGTGCCCAGGCTGG (BBS1)	ENSP00000377563.2:p.Val278GlnfsTer14
ENST00000419755.3:c.1328_1329insTCAATGGTGCCCAGGCTGG	ENSP00000398526.3:p.Val444GlnfsTer14
ENST00000455748.6:c.926_927insTCAATGGTGCCCAGGCTGG (BBS1)	ENSP00000405764.2:p.Val310GlnfsTer14
ENST00000526760.5:c.*924_*925insTCAATGGTGCCCAGGCTGG (BBS1)	ENSP00000432140.1:n.*924_*925insTCAATGGTGCCCAGGCTGG
ENST00000526986.5:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	ENSP00000431321.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA
ENST00000527959.1:n.361_362insTCAATGGTGCCCAGGCTGG (BBS1)
ENST00000529766.5:n.1224_1225insTCAATGGTGCCCAGGCTGG (BBS1)
ENST00000529955.5:n.1188_1189insTCAATGGTGCCCAGGCTGG (BBS1)
ENST00000534073.5:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	ENSP00000436503.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA
ENST00000630659.2:c.*924_*925insTCAATGGTGCCCAGGCTGG (BBS1)	ENSP00000486455.1:n.*924_*925insTCAATGGTGCCCAGGCTGG
NM_024649.4:c.1217_1218insTCAATGGTGCCCAGGCTGG (BBS1)	NP_078925.3:p.Val407GlnfsTer14
XM_005273874.3:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	XP_005273931.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA
XM_011544894.1:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	XP_011543196.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA
XM_011544895.1:c.560-2410_560-2409insCCAGCCTGGGCACCATTGA (ZDHHC24)	XP_011543197.1:n.560-2410_560-2409insCCAGCCTGGGCACCATTGA
XR_949860.1:n.686+250_686+251insCCAGCCTGGGCACCATTGA (ZDHHC24)
NM_001348571.1:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	NP_001335500.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA
XM_005273874.4:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	XP_005273931.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA
XM_011544894.2:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	XP_011543196.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA
XR_001747823.2:n.741-2410_741-2409insCCAGCCTGGGCACCATTGA (ZDHHC24)
XR_949860.3:n.811+250_811+251insCCAGCCTGGGCACCATTGA (ZDHHC24)
NM_024649.5:c.1217_1218insTCAATGGTGCCCAGGCTGG (BBS1) MANE Select	NP_078925.3:p.Val407GlnfsTer14
NM_001348571.2:c.*21+250_*21+251insCCAGCCTGGGCACCATTGA (ZDHHC24)	NP_001335500.1:n.*21+250_*21+251insCCAGCCTGGGCACCATTGA