Canonical Allele Identifier: CA1698737833
Gene: BBS9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33384161_33384165delinsGCTAA , CM000669.2:g.33384161_33384165delinsGCTAA GRCh38
NC_000007.13:g.33423773_33423777delinsGCTAA , CM000669.1:g.33423773_33423777delinsGCTAA GRCh37
NC_000007.12:g.33390298_33390302delinsGCTAA NCBI36
NG_009306.1:g.259622_259626delinsGCTAA
NG_009306.2:g.259918_259922delinsGCTAA

Transcript Alleles

HGVS Amino-acid change
ENST00000242067.11:c.1962+323_1962+327delinsGCTAA MANE Select ENSP00000242067.6:n.1962+323_1962+327deli...
ENST00000671871.1:c.2085+323_2085+327delinsGCTAA ENSP00000499908.1:n.2085+323_2085+327deli...
ENST00000671890.1:c.1827+323_1827+327delinsGCTAA ENSP00000500146.1:n.1827+323_1827+327deli...
ENST00000671952.1:c.1962+323_1962+327delinsGCTAA ENSP00000500239.1:n.1962+323_1962+327deli...
ENST00000671963.1:c.1596+323_1596+327delinsGCTAA ENSP00000499904.1:n.1596+323_1596+327deli...
ENST00000672453.1:n.1731+323_1731+327delinsGCTAA
ENST00000672717.1:c.1857+323_1857+327delinsGCTAA ENSP00000499835.1:n.1857+323_1857+327deli...
ENST00000672973.1:c.1962+323_1962+327delinsGCTAA ENSP00000500017.1:n.1962+323_1962+327deli...
ENST00000673056.1:c.1962+323_1962+327delinsGCTAA ENSP00000499989.1:n.1962+323_1962+327deli...
ENST00000673219.1:c.*1699+323_*1699+327delinsGCTAA ENSP00000499968.1:n.*1699+323_*1699+327de...
ENST00000673230.1:n.1993+323_1993+327delinsGCTAA
ENST00000673431.1:c.1827+323_1827+327delinsGCTAA ENSP00000500552.1:n.1827+323_1827+327deli...
ENST00000673462.1:c.*708+323_*708+327delinsGCTAA ENSP00000499848.1:n.*708+323_*708+327deli...
ENST00000242067.10:c.1962+323_1962+327delinsGCTAA ENSP00000242067.6:n.1962+323_1962+327deli...
ENST00000350941.7:c.1842+323_1842+327delinsGCTAA ENSP00000313122.6:n.1842+323_1842+327deli...
ENST00000355070.6:c.1947+323_1947+327delinsGCTAA ENSP00000347182.2:n.1947+323_1947+327deli...
ENST00000396127.6:c.1857+323_1857+327delinsGCTAA ENSP00000379433.2:n.1857+323_1857+327deli...
ENST00000433714.5:c.*723+323_*723+327delinsGCTAA ENSP00000412159.1:n.*723+323_*723+327deli...
ENST00000434373.3:c.661+323_661+327delinsGCTAA
ENST00000496029.1:n.85+323_85+327delinsGCTAA
ENST00000627264.1:c.533+323_533+327delinsGCTAA
NM_001033604.1:c.1857+323_1857+327delinsGCTAA NP_001028776.1:n.1857+323_1857+327delinsG...
NM_001033605.1:c.1947+323_1947+327delinsGCTAA NP_001028777.1:n.1947+323_1947+327delinsG...
NM_014451.3:c.1842+323_1842+327delinsGCTAA NP_055266.2:n.1842+323_1842+327delinsGCTA...
NM_198428.2:c.1962+323_1962+327delinsGCTAA NP_940820.1:n.1962+323_1962+327delinsGCTA...
XM_005249700.3:c.1962+323_1962+327delinsGCTAA XP_005249757.1:n.1962+323_1962+327delinsG...
XM_005249701.1:c.1962+323_1962+327delinsGCTAA XP_005249758.1:n.1962+323_1962+327delinsG...
XM_011515264.1:c.1962+323_1962+327delinsGCTAA XP_011513566.1:n.1962+323_1962+327delinsG...
XM_011515265.1:c.1962+323_1962+327delinsGCTAA XP_011513567.1:n.1962+323_1962+327delinsG...
XM_011515266.1:c.1947+323_1947+327delinsGCTAA XP_011513568.1:n.1947+323_1947+327delinsG...
XM_011515267.1:c.1857+323_1857+327delinsGCTAA XP_011513569.1:n.1857+323_1857+327delinsG...
XM_011515268.1:c.1962+323_1962+327delinsGCTAA XP_011513570.1:n.1962+323_1962+327delinsG...
XM_011515269.1:c.1689+323_1689+327delinsGCTAA XP_011513571.1:n.1689+323_1689+327delinsG...
XM_011515270.1:c.1962+323_1962+327delinsGCTAA XP_011513572.1:n.1962+323_1962+327delinsG...
NM_001348036.1:c.1962+323_1962+327delinsGCTAA NP_001334965.1:n.1962+323_1962+327delinsG...
NM_001348037.2:c.1596+323_1596+327delinsGCTAA NP_001334966.1:n.1596+323_1596+327delinsG...
NM_001348038.2:c.1689+323_1689+327delinsGCTAA NP_001334967.1:n.1689+323_1689+327delinsG...
NM_001348039.2:c.1584+323_1584+327delinsGCTAA NP_001334968.1:n.1584+323_1584+327delinsG...
NM_001348040.2:c.1842+323_1842+327delinsGCTAA NP_001334969.1:n.1842+323_1842+327delinsG...
NM_001348041.3:c.1962+323_1962+327delinsGCTAA NP_001334970.1:n.1962+323_1962+327delinsG...
NM_001348042.2:c.1827+323_1827+327delinsGCTAA NP_001334971.1:n.1827+323_1827+327delinsG...
NM_001348043.2:c.1962+323_1962+327delinsGCTAA NP_001334972.1:n.1962+323_1962+327delinsG...
NM_001348044.2:c.1491+323_1491+327delinsGCTAA NP_001334973.1:n.1491+323_1491+327delinsG...
NM_001348045.2:c.1596+323_1596+327delinsGCTAA NP_001334974.1:n.1596+323_1596+327delinsG...
NM_001348046.2:c.1596+323_1596+327delinsGCTAA NP_001334975.1:n.1596+323_1596+327delinsG...
NM_001362679.1:c.1962+323_1962+327delinsGCTAA NP_001349608.1:n.1962+323_1962+327delinsG...
NR_145411.1:n.2241+323_2241+327delinsGCTAA
NR_145412.1:n.2433+323_2433+327delinsGCTAA
NR_145413.2:n.2619+323_2619+327delinsGCTAA
XM_005249701.3:c.1962+323_1962+327delinsGCTAA XP_005249758.1:n.1962+323_1962+327delinsG...
XM_011515265.2:c.1962+323_1962+327delinsGCTAA XP_011513567.1:n.1962+323_1962+327delinsG...
XM_011515266.3:c.1947+323_1947+327delinsGCTAA XP_011513568.1:n.1947+323_1947+327delinsG...
XM_011515267.3:c.1857+323_1857+327delinsGCTAA XP_011513569.1:n.1857+323_1857+327delinsG...
XM_011515269.2:c.1689+323_1689+327delinsGCTAA XP_011513571.1:n.1689+323_1689+327delinsG...
XM_011515270.3:c.1962+323_1962+327delinsGCTAA XP_011513572.1:n.1962+323_1962+327delinsG...
XM_017011990.1:c.1947+323_1947+327delinsGCTAA XP_016867479.1:n.1947+323_1947+327delinsG...
NM_001348040.3:c.1842+323_1842+327delinsGCTAA NP_001334969.1:n.1842+323_1842+327delinsG...
NM_001348041.4:c.1962+323_1962+327delinsGCTAA NP_001334970.1:n.1962+323_1962+327delinsG...
NM_001348043.3:c.1962+323_1962+327delinsGCTAA NP_001334972.1:n.1962+323_1962+327delinsG...
NM_198428.3:c.1962+323_1962+327delinsGCTAA MANE Select NP_940820.1:n.1962+323_1962+327delinsGCTA...
NM_001033604.2:c.1857+323_1857+327delinsGCTAA NP_001028776.1:n.1857+323_1857+327delinsG...
NM_001033605.2:c.1947+323_1947+327delinsGCTAA NP_001028777.1:n.1947+323_1947+327delinsG...
NM_001348037.3:c.1596+323_1596+327delinsGCTAA NP_001334966.1:n.1596+323_1596+327delinsG...
NM_001348038.3:c.1689+323_1689+327delinsGCTAA NP_001334967.1:n.1689+323_1689+327delinsG...
NM_001348039.3:c.1584+323_1584+327delinsGCTAA NP_001334968.1:n.1584+323_1584+327delinsG...
NM_001348042.3:c.1827+323_1827+327delinsGCTAA NP_001334971.1:n.1827+323_1827+327delinsG...
NM_001348044.3:c.1491+323_1491+327delinsGCTAA NP_001334973.1:n.1491+323_1491+327delinsG...
NM_001348045.3:c.1596+323_1596+327delinsGCTAA NP_001334974.1:n.1596+323_1596+327delinsG...
NM_001348046.3:c.1596+323_1596+327delinsGCTAA NP_001334975.1:n.1596+323_1596+327delinsG...
NM_014451.4:c.1842+323_1842+327delinsGCTAA NP_055266.2:n.1842+323_1842+327delinsGCTA...
NR_145413.3:n.2595+323_2595+327delinsGCTAA