Canonical Allele Identifier: CA8065570

Gene: BBS2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56485697_56485703del , CM000678.2:g.56485697_56485703del	GRCh38
NC_000016.9:g.56519609_56519615del , CM000678.1:g.56519609_56519615del	GRCh37
NC_000016.8:g.55077110_55077116del	NCBI36
NG_009312.1:g.39581_39587del
NG_009312.2:g.39322_39328del

Transcript Alleles

HGVS	Amino-acid Change
NM_031885.5:c.1946_1952del MANE Select	NP_114091.4:p.Asp649ValfsTer5
ENST00000245157.11:c.1946_1952del MANE Select	ENSP00000245157.5:p.Asp649ValfsTer5
NM_001377456.1:c.1946_1952del	NP_001364385.1:p.Asp649ValfsTer5
NM_031885.3:c.1946_1952del	NP_114091.3:p.Asp649ValfsTer5
NM_031885.4:c.1946_1952del	NP_114091.3:p.Asp649ValfsTer5
NR_165293.1:n.2236_2242del
NR_165294.1:n.2233_2239del
NR_165295.1:n.2064_2070del
NR_165296.1:n.1936_1942del
NR_165297.1:n.1936_1942del
ENST00000245157.9:c.1946_1952del	ENSP00000245157.5:p.Asp649ValfsTer5
ENST00000561877.2:c.1933_1939del	ENSP00000454986.2:n.1933_1939del
ENST00000562813.1:n.3433_3439del
ENST00000562813.2:n.3433_3439del
ENST00000564123.6:c.36_42del
ENST00000564123.7:n.791_797del
ENST00000564459.5:c.209_215del	ENSP00000463731.1:p.Asp70ValfsTer5
ENST00000564459.6:n.673_679del
ENST00000565781.5:n.5477_5483del
ENST00000565781.6:n.5477_5483del
ENST00000565859.2:n.3020_3026del
ENST00000566210.2:n.2375_2381del
ENST00000566410.2:n.5460_5466del
ENST00000566452.2:n.3069_3075del
ENST00000568104.5:c.1808_1814del	ENSP00000456289.1:p.Asp603ValfsTer5
ENST00000568104.6:c.1808_1814del	ENSP00000456289.1:p.Asp603ValfsTer5
ENST00000569192.5:n.620_626del
ENST00000569192.6:n.1051_1057del
ENST00000618027.2:n.725_731del
ENST00000682000.1:n.1504_1510del
ENST00000682001.1:n.2975_2981del
ENST00000682038.1:c.*1335_*1341del	ENSP00000508404.1:n.*1335_*1341del
ENST00000682047.1:c.1946_1952del	ENSP00000507699.1:p.Asp649ValfsTer5
ENST00000682088.1:c.*4887_*4893del	ENSP00000508064.1:n.*4887_*4893del
ENST00000682096.1:n.4396_4402del
ENST00000682113.1:n.4163_4169del
ENST00000682146.1:n.3103_3109del
ENST00000682187.1:c.*1370_*1376del	ENSP00000507203.1:n.*1370_*1376del
ENST00000682188.1:c.1991_1997del	ENSP00000507655.1:p.Asp664ValfsTer5
ENST00000682201.1:n.1937_1943del
ENST00000682205.1:c.1946_1952del	ENSP00000508377.1:p.Asp649ValfsTer5
ENST00000682348.1:c.*995_*1001del	ENSP00000506965.1:n.*995_*1001del
ENST00000682360.1:c.1349_1355del	ENSP00000508007.1:p.Asp450ValfsTer5
ENST00000682370.1:n.3312_3318del
ENST00000682420.1:n.2493_2499del
ENST00000682429.1:c.*615_*621del	ENSP00000506827.1:n.*615_*621del
ENST00000682449.1:c.*697_*703del	ENSP00000507836.1:n.*697_*703del
ENST00000682470.1:c.1946_1952del	ENSP00000507654.1:p.Asp649ValfsTer5
ENST00000682473.1:n.1911_1917del
ENST00000682482.1:c.1820_1826del	ENSP00000507903.1:p.Asp607ValfsTer5
ENST00000682492.1:n.2034_2040del
ENST00000682493.1:c.*541_*547del	ENSP00000506778.1:n.*541_*547del
ENST00000682543.1:c.*1370_*1376del	ENSP00000507592.1:n.*1370_*1376del
ENST00000682597.1:n.4133_4139del
ENST00000682658.1:c.*978_*984del	ENSP00000507773.1:n.*978_*984del
ENST00000682705.1:n.3015_3021del
ENST00000682723.1:c.*25_*31del	ENSP00000507115.1:n.*25_*31del
ENST00000682735.1:c.*3614_*3620del	ENSP00000507007.1:n.*3614_*3620del
ENST00000682737.1:c.1349_1355del	ENSP00000506876.1:p.Asp450ValfsTer5
ENST00000682757.1:n.3639_3645del
ENST00000682855.1:c.1946_1952del	ENSP00000507027.1:p.Asp649ValfsTer5
ENST00000682875.1:c.*25_*31del	ENSP00000507771.1:n.*25_*31del
ENST00000682930.1:c.1871_1877del	ENSP00000507981.1:p.Asp624ValfsTer5
ENST00000682948.1:n.2978_2984del
ENST00000682960.1:n.4187_4193del
ENST00000683008.1:n.5401_5407del
ENST00000683020.1:c.*487_*493del	ENSP00000507944.1:n.*487_*493del
ENST00000683099.1:n.3975_3981del
ENST00000683170.1:n.3671_3677del
ENST00000683212.1:c.*487_*493del	ENSP00000507839.1:n.*487_*493del
ENST00000683248.1:n.3904_3910del
ENST00000683343.1:n.2800_2806del
ENST00000683347.1:n.2153_2159del
ENST00000683384.1:c.1967_1973del	ENSP00000508330.1:n.1967_1973del
ENST00000683396.1:n.4723_4729del
ENST00000683410.1:n.2427_2433del
ENST00000683443.1:n.1580_1586del
ENST00000683485.1:n.4514_4520del
ENST00000683504.1:n.7537_7543del
ENST00000683533.1:c.*1370_*1376del	ENSP00000508296.1:n.*1370_*1376del
ENST00000683609.1:n.4015_4021del
ENST00000683644.1:c.*1120_*1126del	ENSP00000507914.1:n.*1120_*1126del
ENST00000683690.1:c.*3398_*3404del	ENSP00000508152.1:n.*3398_*3404del
ENST00000683757.1:n.1935_1941del
ENST00000683858.1:c.1898_1904del	ENSP00000507657.1:p.Asp633ValfsTer5
ENST00000683875.1:c.1718_1724del	ENSP00000507602.1:p.Asp573ValfsTer5
ENST00000683904.1:n.4251_4257del
ENST00000683910.1:n.4641_4647del
ENST00000683959.1:c.*995_*1001del	ENSP00000508309.1:n.*995_*1001del
ENST00000683976.1:c.*1495_*1501del	ENSP00000507183.1:n.*1495_*1501del
ENST00000683978.1:n.2089_2095del
ENST00000683992.1:c.*1586_*1592del	ENSP00000508144.1:n.*1586_*1592del
ENST00000684020.1:n.2368_2374del
ENST00000684044.1:n.2934_2940del
ENST00000684057.1:n.2864_2870del
ENST00000684076.1:n.3326_3332del
ENST00000684128.1:n.3514_3520del
ENST00000684194.1:n.3577_3583del
ENST00000684205.1:n.3625_3631del
ENST00000684246.1:c.*1586_*1592del	ENSP00000508273.1:n.*1586_*1592del
ENST00000684388.1:c.866_872del	ENSP00000507647.1:p.Asp289ValfsTer5
ENST00000684402.1:n.3187_3193del
ENST00000684446.1:n.3430_3436del
ENST00000684531.1:n.3388_3394del
ENST00000684635.1:c.1841_1847del	ENSP00000507335.1:p.Asp614ValfsTer5
ENST00000684640.1:c.1908_1914del	ENSP00000507292.1:n.1908_1914del
ENST00000684673.1:c.*541_*547del	ENSP00000507746.1:n.*541_*547del
ENST00000684684.1:c.*1198_*1204del	ENSP00000507026.1:n.*1198_*1204del
XM_005256080.1:c.1946_1952del	XP_005256137.1:p.Asp649ValfsTer5
XM_005256080.2:c.1946_1952del	XP_005256137.1:p.Asp649ValfsTer5
XR_001751958.1:n.2307_2313del
XR_001751959.2:n.2304_2310del
XR_001751960.1:n.2007_2013del
XR_001751961.1:n.2007_2013del
XR_933378.1:n.2007_2013del
XR_933380.2:n.2135_2141del