Canonical Allele Identifier: CA2774972828

Gene: BBS9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33367889_33367890insAC , CM000669.2:g.33367889_33367890insAC	GRCh38
NC_000007.13:g.33407501_33407502insAC , CM000669.1:g.33407501_33407502insAC	GRCh37
NC_000007.12:g.33374026_33374027insAC	NCBI36
NG_009306.1:g.243350_243351insAC
NG_009306.2:g.243646_243647insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242067.11:c.1789+27_1789+28insAC MANE Select	ENSP00000242067.6:n.1789+27_1789+28insAC
ENST00000671871.1:c.1912+27_1912+28insAC	ENSP00000499908.1:n.1912+27_1912+28insAC
ENST00000671890.1:c.1654+27_1654+28insAC	ENSP00000500146.1:n.1654+27_1654+28insAC
ENST00000671952.1:c.1789+27_1789+28insAC	ENSP00000500239.1:n.1789+27_1789+28insAC
ENST00000671963.1:c.1423+27_1423+28insAC	ENSP00000499904.1:n.1423+27_1423+28insAC
ENST00000672453.1:n.1558+27_1558+28insAC
ENST00000672717.1:c.1684+27_1684+28insAC	ENSP00000499835.1:n.1684+27_1684+28insAC
ENST00000672973.1:c.1789+27_1789+28insAC	ENSP00000500017.1:n.1789+27_1789+28insAC
ENST00000673056.1:c.1789+27_1789+28insAC	ENSP00000499989.1:n.1789+27_1789+28insAC
ENST00000673219.1:c.*1526+27_*1526+28insAC	ENSP00000499968.1:n.*1526+27_*1526+28insAC
ENST00000673230.1:n.1820+27_1820+28insAC
ENST00000673431.1:c.1654+27_1654+28insAC	ENSP00000500552.1:n.1654+27_1654+28insAC
ENST00000673462.1:c.*535+27_*535+28insAC	ENSP00000499848.1:n.*535+27_*535+28insAC
ENST00000242067.10:c.1789+27_1789+28insAC	ENSP00000242067.6:n.1789+27_1789+28insAC
ENST00000350941.7:c.1669+27_1669+28insAC	ENSP00000313122.6:n.1669+27_1669+28insAC
ENST00000355070.6:c.1774+27_1774+28insAC	ENSP00000347182.2:n.1774+27_1774+28insAC
ENST00000396127.6:c.1684+27_1684+28insAC	ENSP00000379433.2:n.1684+27_1684+28insAC
ENST00000433714.5:c.*550+27_*550+28insAC	ENSP00000412159.1:n.*550+27_*550+28insAC
ENST00000434373.3:c.488+27_488+28insAC
ENST00000627264.1:c.360+27_360+28insAC
NM_001033604.1:c.1684+27_1684+28insAC	NP_001028776.1:n.1684+27_1684+28insAC
NM_001033605.1:c.1774+27_1774+28insAC	NP_001028777.1:n.1774+27_1774+28insAC
NM_014451.3:c.1669+27_1669+28insAC	NP_055266.2:n.1669+27_1669+28insAC
NM_198428.2:c.1789+27_1789+28insAC	NP_940820.1:n.1789+27_1789+28insAC
XM_005249700.3:c.1789+27_1789+28insAC	XP_005249757.1:n.1789+27_1789+28insAC
XM_005249701.1:c.1789+27_1789+28insAC	XP_005249758.1:n.1789+27_1789+28insAC
XM_011515264.1:c.1789+27_1789+28insAC	XP_011513566.1:n.1789+27_1789+28insAC
XM_011515265.1:c.1789+27_1789+28insAC	XP_011513567.1:n.1789+27_1789+28insAC
XM_011515266.1:c.1774+27_1774+28insAC	XP_011513568.1:n.1774+27_1774+28insAC
XM_011515267.1:c.1684+27_1684+28insAC	XP_011513569.1:n.1684+27_1684+28insAC
XM_011515268.1:c.1789+27_1789+28insAC	XP_011513570.1:n.1789+27_1789+28insAC
XM_011515269.1:c.1516+27_1516+28insAC	XP_011513571.1:n.1516+27_1516+28insAC
XM_011515270.1:c.1789+27_1789+28insAC	XP_011513572.1:n.1789+27_1789+28insAC
NM_001348036.1:c.1789+27_1789+28insAC	NP_001334965.1:n.1789+27_1789+28insAC
NM_001348037.2:c.1423+27_1423+28insAC	NP_001334966.1:n.1423+27_1423+28insAC
NM_001348038.2:c.1516+27_1516+28insAC	NP_001334967.1:n.1516+27_1516+28insAC
NM_001348039.2:c.1411+27_1411+28insAC	NP_001334968.1:n.1411+27_1411+28insAC
NM_001348040.2:c.1669+27_1669+28insAC	NP_001334969.1:n.1669+27_1669+28insAC
NM_001348041.3:c.1789+27_1789+28insAC	NP_001334970.1:n.1789+27_1789+28insAC
NM_001348042.2:c.1654+27_1654+28insAC	NP_001334971.1:n.1654+27_1654+28insAC
NM_001348043.2:c.1789+27_1789+28insAC	NP_001334972.1:n.1789+27_1789+28insAC
NM_001348044.2:c.1318+27_1318+28insAC	NP_001334973.1:n.1318+27_1318+28insAC
NM_001348045.2:c.1423+27_1423+28insAC	NP_001334974.1:n.1423+27_1423+28insAC
NM_001348046.2:c.1423+27_1423+28insAC	NP_001334975.1:n.1423+27_1423+28insAC
NM_001362679.1:c.1789+27_1789+28insAC	NP_001349608.1:n.1789+27_1789+28insAC
NR_145411.1:n.2068+27_2068+28insAC
NR_145412.1:n.2260+27_2260+28insAC
NR_145413.2:n.2446+27_2446+28insAC
XM_005249701.3:c.1789+27_1789+28insAC	XP_005249758.1:n.1789+27_1789+28insAC
XM_011515265.2:c.1789+27_1789+28insAC	XP_011513567.1:n.1789+27_1789+28insAC
XM_011515266.3:c.1774+27_1774+28insAC	XP_011513568.1:n.1774+27_1774+28insAC
XM_011515267.3:c.1684+27_1684+28insAC	XP_011513569.1:n.1684+27_1684+28insAC
XM_011515269.2:c.1516+27_1516+28insAC	XP_011513571.1:n.1516+27_1516+28insAC
XM_011515270.3:c.1789+27_1789+28insAC	XP_011513572.1:n.1789+27_1789+28insAC
XM_017011990.1:c.1774+27_1774+28insAC	XP_016867479.1:n.1774+27_1774+28insAC
NM_001348040.3:c.1669+27_1669+28insAC	NP_001334969.1:n.1669+27_1669+28insAC
NM_001348041.4:c.1789+27_1789+28insAC	NP_001334970.1:n.1789+27_1789+28insAC
NM_001348043.3:c.1789+27_1789+28insAC	NP_001334972.1:n.1789+27_1789+28insAC
NM_198428.3:c.1789+27_1789+28insAC MANE Select	NP_940820.1:n.1789+27_1789+28insAC
NM_001033604.2:c.1684+27_1684+28insAC	NP_001028776.1:n.1684+27_1684+28insAC
NM_001033605.2:c.1774+27_1774+28insAC	NP_001028777.1:n.1774+27_1774+28insAC
NM_001348037.3:c.1423+27_1423+28insAC	NP_001334966.1:n.1423+27_1423+28insAC
NM_001348038.3:c.1516+27_1516+28insAC	NP_001334967.1:n.1516+27_1516+28insAC
NM_001348039.3:c.1411+27_1411+28insAC	NP_001334968.1:n.1411+27_1411+28insAC
NM_001348042.3:c.1654+27_1654+28insAC	NP_001334971.1:n.1654+27_1654+28insAC
NM_001348044.3:c.1318+27_1318+28insAC	NP_001334973.1:n.1318+27_1318+28insAC
NM_001348045.3:c.1423+27_1423+28insAC	NP_001334974.1:n.1423+27_1423+28insAC
NM_001348046.3:c.1423+27_1423+28insAC	NP_001334975.1:n.1423+27_1423+28insAC
NM_014451.4:c.1669+27_1669+28insAC	NP_055266.2:n.1669+27_1669+28insAC
NR_145413.3:n.2422+27_2422+28insAC