Canonical Allele Identifier: CA618764583
Gene: BBS4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72712317A>G , CM000677.2:g.72712317A>G GRCh38
NC_000015.9:g.73004658A>G , CM000677.1:g.73004658A>G GRCh37
NC_000015.8:g.70791711A>G NCBI36
NG_009416.2:g.31133A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268057.9:c.220+10A>G MANE Select ENSP00000268057.4:n.220+10A>G
ENST00000268057.8:c.220+10A>G ENSP00000268057.4:n.220+10A>G
ENST00000395205.6:c.-302+10A>G ENSP00000378631.3:n.-302+10A>G
ENST00000561914.5:c.220+10A>G ENSP00000457795.1:n.220+10A>G
ENST00000562084.5:c.*299+10A>G ENSP00000454718.1:n.*299+10A>G
ENST00000563600.5:c.*170+10A>G ENSP00000457753.1:n.*170+10A>G
ENST00000564239.1:n.287+10A>G
ENST00000565160.5:c.220+10A>G ENSP00000455412.1:n.220+10A>G
ENST00000566400.5:c.*105+10A>G ENSP00000456759.1:n.*105+10A>G
ENST00000566829.1:c.238+10A>G ENSP00000455958.1:n.238+10A>G
ENST00000566938.5:c.*105+10A>G ENSP00000456463.1:n.*105+10A>G
ENST00000567279.5:c.*74+10A>G ENSP00000456664.1:n.*74+10A>G
ENST00000569338.5:c.211+10A>G ENSP00000456758.1:n.211+10A>G
ENST00000569440.5:c.*164+10A>G ENSP00000457958.1:n.*164+10A>G
NM_001252678.1:c.-302+10A>G NP_001239607.1:n.-302+10A>G
NM_033028.4:c.220+10A>G NP_149017.2:n.220+10A>G
NR_045565.1:n.327+10A>G
NR_045566.1:n.582+10A>G
XM_006720625.2:c.220+10A>G XP_006720688.1:n.220+10A>G
XM_011521848.1:c.-302+10A>G XP_011520150.1:n.-302+10A>G
XM_011521849.1:c.-185+10A>G XP_011520151.1:n.-185+10A>G
XM_011521850.1:c.-190+10A>G XP_011520152.1:n.-190+10A>G
XM_011521851.1:c.-394+10A>G XP_011520153.1:n.-394+10A>G
NM_001320665.1:c.220+10A>G NP_001307594.1:n.220+10A>G
XM_017022450.1:c.244+10A>G XP_016877939.1:n.244+10A>G
XM_017022452.1:c.-185+10A>G XP_016877941.1:n.-185+10A>G
XM_017022453.1:c.-190+10A>G XP_016877942.1:n.-190+10A>G
XM_017022454.1:c.-190+10A>G XP_016877943.1:n.-190+10A>G
NM_033028.5:c.220+10A>G MANE Select NP_149017.2:n.220+10A>G
NM_001252678.2:c.-302+10A>G NP_001239607.1:n.-302+10A>G
NM_001320665.2:c.220+10A>G NP_001307594.1:n.220+10A>G
NR_045565.2:n.299+10A>G
NR_045566.2:n.554+10A>G