Canonical Allele Identifier: CA2723365475
Gene: BMAL1 HGNC NCBI

Linked Data

dbSNP Id: rs2135685122

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.13386064_13386065del , CM000673.2:g.13386064_13386065del GRCh38
NC_000011.9:g.13407611_13407612del , CM000673.1:g.13407611_13407612del GRCh37
NC_000011.8:g.13364187_13364188del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000401424.6:c.1588+273_1588+274del ENSP00000385915.2:n.1588+273_1588+274del
ENST00000403290.6:c.1720+273_1720+274del MANE Select ENSP00000384517.1:n.1720+273_1720+274del
ENST00000403510.8:c.1720+273_1720+274del ENSP00000385581.4:n.1720+273_1720+274del
ENST00000529388.6:c.1720+273_1720+274del ENSP00000433571.2:n.1720+273_1720+274del
ENST00000673626.1:c.*1599+273_*1599+274del ENSP00000500988.1:n.*1599+273_*1599+274del
ENST00000673817.1:c.1732+273_1732+274del ENSP00000501212.1:n.1732+273_1732+274del
ENST00000673834.1:c.*1583+273_*1583+274del ENSP00000500983.1:n.*1583+273_*1583+274del
ENST00000673868.1:c.1310+273_1310+274del
ENST00000673888.1:c.*1599+273_*1599+274del ENSP00000501059.1:n.*1599+273_*1599+274del
ENST00000673892.1:c.*1596+273_*1596+274del ENSP00000501106.1:n.*1596+273_*1596+274del
ENST00000674108.1:c.*1583+273_*1583+274del ENSP00000501035.1:n.*1583+273_*1583+274del
ENST00000389707.8:c.1717+273_1717+274del ENSP00000374357.4:n.1717+273_1717+274del
ENST00000401424.5:c.1591+273_1591+274del ENSP00000385915.1:n.1591+273_1591+274del
ENST00000403290.5:c.1720+273_1720+274del ENSP00000384517.1:n.1720+273_1720+274del
ENST00000403482.7:c.1714+273_1714+274del ENSP00000385897.3:n.1714+273_1714+274del
ENST00000403510.7:c.1588+273_1588+274del ENSP00000385581.3:n.1588+273_1588+274del
ENST00000472842.1:n.3194+273_3194+274del
ENST00000524392.5:c.750+273_750+274del ENSP00000436442.1:n.750+273_750+274del
NM_001030272.2:c.1717+273_1717+274del NP_001025443.1:n.1717+273_1717+274del
NM_001030273.2:c.1588+273_1588+274del NP_001025444.1:n.1588+273_1588+274del
NM_001178.5:c.1717+273_1717+274del NP_001169.3:n.1717+273_1717+274del
NM_001297719.1:c.1720+273_1720+274del NP_001284648.1:n.1720+273_1720+274del
NM_001297722.1:c.1720+273_1720+274del NP_001284651.1:n.1720+273_1720+274del
NM_001297724.1:c.1591+273_1591+274del NP_001284653.1:n.1591+273_1591+274del
XM_006718233.2:c.1735+273_1735+274del XP_006718296.1:n.1735+273_1735+274del
XM_006718234.1:c.1606+273_1606+274del XP_006718297.1:n.1606+273_1606+274del
XM_011520105.1:c.1732+273_1732+274del XP_011518407.1:n.1732+273_1732+274del
XM_011520106.1:c.1720+273_1720+274del XP_011518408.1:n.1720+273_1720+274del
XM_011520107.1:c.1717+273_1717+274del XP_011518409.1:n.1717+273_1717+274del
XM_011520108.1:c.1735+273_1735+274del XP_011518410.1:n.1735+273_1735+274del
XM_011520109.1:c.1735+273_1735+274del XP_011518411.1:n.1735+273_1735+274del
XM_011520110.1:c.1606+273_1606+274del XP_011518412.1:n.1606+273_1606+274del
XM_011520111.1:c.1606+273_1606+274del XP_011518413.1:n.1606+273_1606+274del
XM_011520112.1:c.1591+273_1591+274del XP_011518414.1:n.1591+273_1591+274del
XM_011520113.1:c.1588+273_1588+274del XP_011518415.1:n.1588+273_1588+274del
NM_001351804.1:c.1717+273_1717+274del NP_001338733.1:n.1717+273_1717+274del
NM_001351805.1:c.1681+273_1681+274del NP_001338734.1:n.1681+273_1681+274del
NM_001351806.1:c.1678+273_1678+274del NP_001338735.1:n.1678+273_1678+274del
NM_001351807.1:c.1735+273_1735+274del NP_001338736.1:n.1735+273_1735+274del
NM_001351808.1:c.1591+273_1591+274del NP_001338737.1:n.1591+273_1591+274del
NM_001351809.1:c.1669+273_1669+274del NP_001338738.1:n.1669+273_1669+274del
NM_001351810.1:c.1366+273_1366+274del NP_001338739.1:n.1366+273_1366+274del
NM_001351811.1:c.970+273_970+274del NP_001338740.1:n.970+273_970+274del
NM_001351812.1:c.1669+273_1669+274del NP_001338741.1:n.1669+273_1669+274del
NM_001351813.1:c.1603+273_1603+274del NP_001338742.1:n.1603+273_1603+274del
NM_001351814.1:c.1735+273_1735+274del NP_001338743.1:n.1735+273_1735+274del
NM_001351815.1:c.1717+273_1717+274del NP_001338744.1:n.1717+273_1717+274del
NM_001351816.1:c.1591+273_1591+274del NP_001338745.1:n.1591+273_1591+274del
NM_001351817.1:c.1366+273_1366+274del NP_001338746.1:n.1366+273_1366+274del
NM_001351818.1:c.1588+273_1588+274del NP_001338747.1:n.1588+273_1588+274del
NM_001351819.1:c.1732+273_1732+274del NP_001338748.1:n.1732+273_1732+274del
NM_001351820.1:c.1591+273_1591+274del NP_001338749.1:n.1591+273_1591+274del
NM_001351821.1:c.1591+273_1591+274del NP_001338750.1:n.1591+273_1591+274del
NM_001351822.1:c.1591+273_1591+274del NP_001338751.1:n.1591+273_1591+274del
NM_001351823.1:c.1606+273_1606+274del NP_001338752.1:n.1606+273_1606+274del
NM_001351824.1:c.1720+273_1720+274del NP_001338753.1:n.1720+273_1720+274del
NR_147785.1:n.2219+273_2219+274del
NR_147786.1:n.2216+273_2216+274del
NR_147787.1:n.2369+273_2369+274del
NR_147788.1:n.2271+273_2271+274del
NR_147789.1:n.2437+273_2437+274del
NR_147790.1:n.2290+273_2290+274del
NR_147791.1:n.2287+273_2287+274del
XM_011520105.3:c.1861+273_1861+274del XP_011518407.2:n.1861+273_1861+274del
XM_011520107.3:c.1846+273_1846+274del XP_011518409.2:n.1846+273_1846+274del
XM_017017738.2:c.1864+273_1864+274del XP_016873227.1:n.1864+273_1864+274del
XM_017017739.2:c.1849+273_1849+274del XP_016873228.1:n.1849+273_1849+274del
XM_017017741.1:c.1732+273_1732+274del XP_016873230.1:n.1732+273_1732+274del
XM_017017744.1:c.1603+273_1603+274del XP_016873233.1:n.1603+273_1603+274del
XM_017017748.1:c.1588+273_1588+274del XP_016873237.1:n.1588+273_1588+274del
XM_024448522.1:c.1669+273_1669+274del XP_024304290.1:n.1669+273_1669+274del
XR_001747876.2:n.2417+273_2417+274del
XR_002957147.1:n.2432+273_2432+274del
NM_001030272.3:c.1717+273_1717+274del NP_001025443.1:n.1717+273_1717+274del
NM_001030273.3:c.1588+273_1588+274del NP_001025444.1:n.1588+273_1588+274del
NM_001178.6:c.1717+273_1717+274del NP_001169.3:n.1717+273_1717+274del
NM_001297719.2:c.1720+273_1720+274del MANE Select NP_001284648.1:n.1720+273_1720+274del
NM_001297722.2:c.1720+273_1720+274del NP_001284651.1:n.1720+273_1720+274del
NM_001297724.2:c.1591+273_1591+274del NP_001284653.1:n.1591+273_1591+274del
NM_001351805.2:c.1681+273_1681+274del NP_001338734.1:n.1681+273_1681+274del
NM_001351806.2:c.1678+273_1678+274del NP_001338735.1:n.1678+273_1678+274del
NM_001351807.2:c.1735+273_1735+274del NP_001338736.1:n.1735+273_1735+274del
NM_001351808.2:c.1591+273_1591+274del NP_001338737.1:n.1591+273_1591+274del
NM_001351809.2:c.1669+273_1669+274del NP_001338738.1:n.1669+273_1669+274del
NM_001351810.2:c.1366+273_1366+274del NP_001338739.1:n.1366+273_1366+274del
NM_001351811.2:c.970+273_970+274del NP_001338740.1:n.970+273_970+274del
NM_001351812.2:c.1669+273_1669+274del NP_001338741.1:n.1669+273_1669+274del
NM_001351813.2:c.1603+273_1603+274del NP_001338742.1:n.1603+273_1603+274del
NM_001351814.2:c.1735+273_1735+274del NP_001338743.1:n.1735+273_1735+274del
NM_001351815.2:c.1717+273_1717+274del NP_001338744.1:n.1717+273_1717+274del
NM_001351816.2:c.1591+273_1591+274del NP_001338745.1:n.1591+273_1591+274del
NM_001351817.2:c.1366+273_1366+274del NP_001338746.1:n.1366+273_1366+274del
NM_001351818.2:c.1588+273_1588+274del NP_001338747.1:n.1588+273_1588+274del
NM_001351819.2:c.1732+273_1732+274del NP_001338748.1:n.1732+273_1732+274del
NM_001351820.2:c.1591+273_1591+274del NP_001338749.1:n.1591+273_1591+274del
NM_001351821.2:c.1591+273_1591+274del NP_001338750.1:n.1591+273_1591+274del
NM_001351822.2:c.1591+273_1591+274del NP_001338751.1:n.1591+273_1591+274del
NM_001351823.2:c.1606+273_1606+274del NP_001338752.1:n.1606+273_1606+274del
NM_001351824.2:c.1720+273_1720+274del NP_001338753.1:n.1720+273_1720+274del
NR_147785.2:n.2156+273_2156+274del
NR_147786.2:n.2153+273_2153+274del
NR_147787.2:n.2306+273_2306+274del
NR_147788.2:n.2208+273_2208+274del
NR_147789.2:n.2374+273_2374+274del
NR_147790.2:n.2227+273_2227+274del
NR_147791.2:n.2224+273_2224+274del