Canonical Allele Identifier: CA252391

Gene: BBS9

Linked Data

• ClinVar Variation Id: 2662
• ClinVar RCV Id: RCV000002781 ; RCV000433738 ; RCV000614851 ; RCV000709632 ; RCV003421896
• dbSNP Id: rs606231137
• ExAC: 7:33423363 AAAAC / A
• gnomAD v2: 7-33423363-AAAAC-A
• gnomAD v3: 7-33383751-AAAAC-A
• gnomAD v4: 7-33383751-AAAAC-A
• MyVariant Identifiers: chr7:g.33423365_33423368del (hg19) ; chr7:g.33423364_33423367del (hg19) ; chr7:g.33383753_33383756del (hg38) ; chr7:g.33383752_33383755del (hg38)
• PubMed: PMID:16380913

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33383753_33383756del , CM000669.2:g.33383753_33383756del	GRCh38
NC_000007.13:g.33423365_33423368del , CM000669.1:g.33423365_33423368del	GRCh37
NC_000007.12:g.33389890_33389893del	NCBI36
NG_009306.1:g.259214_259217del
NG_009306.2:g.259510_259513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242067.11:c.1877_1880del MANE Select	ENSP00000242067.6:p.Lys626ArgfsTer22
ENST00000671871.1:c.2000_2003del	ENSP00000499908.1:p.Lys667ArgfsTer22
ENST00000671890.1:c.1742_1745del	ENSP00000500146.1:p.Lys581ArgfsTer22
ENST00000671952.1:c.1877_1880del	ENSP00000500239.1:p.Lys626ArgfsTer22
ENST00000671963.1:c.1511_1514del	ENSP00000499904.1:p.Lys504ArgfsTer22
ENST00000672453.1:n.1646_1649del
ENST00000672717.1:c.1772_1775del	ENSP00000499835.1:p.Lys591ArgfsTer22
ENST00000672973.1:c.1877_1880del	ENSP00000500017.1:p.Lys626ArgfsTer22
ENST00000673056.1:c.1877_1880del	ENSP00000499989.1:p.Lys626ArgfsTer22
ENST00000673219.1:c.*1614_*1617del	ENSP00000499968.1:n.*1614_*1617del
ENST00000673230.1:n.1908_1911del
ENST00000673431.1:c.1742_1745del	ENSP00000500552.1:p.Lys581ArgfsTer22
ENST00000673462.1:c.*623_*626del	ENSP00000499848.1:n.*623_*626del
ENST00000242067.10:c.1877_1880del	ENSP00000242067.6:p.Lys626ArgfsTer22
ENST00000350941.7:c.1757_1760del	ENSP00000313122.6:p.Lys586ArgfsTer22
ENST00000355070.6:c.1862_1865del	ENSP00000347182.2:p.Lys621ArgfsTer22
ENST00000396127.6:c.1772_1775del	ENSP00000379433.2:p.Lys591ArgfsTer22
ENST00000433714.5:c.*638_*641del	ENSP00000412159.1:n.*638_*641del
ENST00000434373.3:c.576_579del
ENST00000627264.1:c.448_451del
NM_001033604.1:c.1772_1775del	NP_001028776.1:p.Lys591ArgfsTer22
NM_001033605.1:c.1862_1865del	NP_001028777.1:p.Lys621ArgfsTer22
NM_014451.3:c.1757_1760del	NP_055266.2:p.Lys586ArgfsTer22
NM_198428.2:c.1877_1880del	NP_940820.1:p.Lys626ArgfsTer22
XM_005249700.3:c.1877_1880del	XP_005249757.1:p.Lys626ArgfsTer22
XM_005249701.1:c.1877_1880del	XP_005249758.1:p.Lys626ArgfsTer22
XM_011515264.1:c.1877_1880del	XP_011513566.1:p.Lys626ArgfsTer22
XM_011515265.1:c.1877_1880del	XP_011513567.1:p.Lys626ArgfsTer22
XM_011515266.1:c.1862_1865del	XP_011513568.1:p.Lys621ArgfsTer22
XM_011515267.1:c.1772_1775del	XP_011513569.1:p.Lys591ArgfsTer22
XM_011515268.1:c.1877_1880del	XP_011513570.1:p.Lys626ArgfsTer22
XM_011515269.1:c.1604_1607del	XP_011513571.1:p.Lys535ArgfsTer22
XM_011515270.1:c.1877_1880del	XP_011513572.1:p.Lys626ArgfsTer22
NM_001348036.1:c.1877_1880del	NP_001334965.1:p.Lys626ArgfsTer22
NM_001348037.2:c.1511_1514del	NP_001334966.1:p.Lys504ArgfsTer22
NM_001348038.2:c.1604_1607del	NP_001334967.1:p.Lys535ArgfsTer22
NM_001348039.2:c.1499_1502del	NP_001334968.1:p.Lys500ArgfsTer22
NM_001348040.2:c.1757_1760del	NP_001334969.1:p.Lys586ArgfsTer22
NM_001348041.3:c.1877_1880del	NP_001334970.1:p.Lys626ArgfsTer22
NM_001348042.2:c.1742_1745del	NP_001334971.1:p.Lys581ArgfsTer22
NM_001348043.2:c.1877_1880del	NP_001334972.1:p.Lys626ArgfsTer22
NM_001348044.2:c.1406_1409del	NP_001334973.1:p.Lys469ArgfsTer22
NM_001348045.2:c.1511_1514del	NP_001334974.1:p.Lys504ArgfsTer22
NM_001348046.2:c.1511_1514del	NP_001334975.1:p.Lys504ArgfsTer22
NM_001362679.1:c.1877_1880del	NP_001349608.1:p.Lys626ArgfsTer22
NR_145411.1:n.2156_2159del
NR_145412.1:n.2348_2351del
NR_145413.2:n.2534_2537del
XM_005249701.3:c.1877_1880del	XP_005249758.1:p.Lys626ArgfsTer22
XM_011515265.2:c.1877_1880del	XP_011513567.1:p.Lys626ArgfsTer22
XM_011515266.3:c.1862_1865del	XP_011513568.1:p.Lys621ArgfsTer22
XM_011515267.3:c.1772_1775del	XP_011513569.1:p.Lys591ArgfsTer22
XM_011515269.2:c.1604_1607del	XP_011513571.1:p.Lys535ArgfsTer22
XM_011515270.3:c.1877_1880del	XP_011513572.1:p.Lys626ArgfsTer22
XM_017011990.1:c.1862_1865del	XP_016867479.1:p.Lys621ArgfsTer22
NM_001348040.3:c.1757_1760del	NP_001334969.1:p.Lys586ArgfsTer22
NM_001348041.4:c.1877_1880del	NP_001334970.1:p.Lys626ArgfsTer22
NM_001348043.3:c.1877_1880del	NP_001334972.1:p.Lys626ArgfsTer22
NM_198428.3:c.1877_1880del MANE Select	NP_940820.1:p.Lys626ArgfsTer22
NM_001033604.2:c.1772_1775del	NP_001028776.1:p.Lys591ArgfsTer22
NM_001033605.2:c.1862_1865del	NP_001028777.1:p.Lys621ArgfsTer22
NM_001348037.3:c.1511_1514del	NP_001334966.1:p.Lys504ArgfsTer22
NM_001348038.3:c.1604_1607del	NP_001334967.1:p.Lys535ArgfsTer22
NM_001348039.3:c.1499_1502del	NP_001334968.1:p.Lys500ArgfsTer22
NM_001348042.3:c.1742_1745del	NP_001334971.1:p.Lys581ArgfsTer22
NM_001348044.3:c.1406_1409del	NP_001334973.1:p.Lys469ArgfsTer22
NM_001348045.3:c.1511_1514del	NP_001334974.1:p.Lys504ArgfsTer22
NM_001348046.3:c.1511_1514del	NP_001334975.1:p.Lys504ArgfsTer22
NM_014451.4:c.1757_1760del	NP_055266.2:p.Lys586ArgfsTer22
NR_145413.3:n.2510_2513del