Canonical Allele Identifier: CA2573137523
Community Standard Title: NM_001174150.2(ARL13B):c.190_192del (p.Lys64del)
Gene: ARL13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.94003718_94003720del , CM000665.2:g.94003718_94003720del GRCh38
NC_000003.11:g.93722562_93722564del , CM000665.1:g.93722562_93722564del GRCh37
NC_000003.10:g.95205252_95205254del NCBI36
NG_017076.1:g.28580_28582del

Transcript Alleles

HGVS Amino-acid Change
NM_001174150.2:c.190_192del MANE Select NP_001167621.1:p.Lys64del
ENST00000394222.8:c.190_192del MANE Select ENSP00000377769.3:p.Lys64del
NM_001174150.1:c.190_192del NP_001167621.1:p.Lys64del
NM_001174151.1:c.-120_-118del NP_001167622.1:n.-120_-118del
NM_001174151.2:c.-120_-118del NP_001167622.1:n.-120_-118del
NM_001321328.1:c.145_147del NP_001308257.1:p.Lys49del
NM_001321328.2:c.145_147del NP_001308257.1:p.Lys49del
NM_144996.3:c.59+23236_59+23238del NP_659433.2:n.59+23236_59+23238del
NM_144996.4:c.59+23236_59+23238del NP_659433.2:n.59+23236_59+23238del
NM_182896.2:c.190_192del NP_878899.1:p.Lys64del
NM_182896.3:c.190_192del NP_878899.1:p.Lys64del
NR_033427.1:n.415+7774_415+7776del
NR_033427.2:n.399+7774_399+7776del
NR_135621.1:n.411+7774_411+7776del
NR_135621.2:n.395+7774_395+7776del
ENST00000303097.11:c.59+23236_59+23238del ENSP00000306225.7:n.59+23236_59+23238del
ENST00000335438.7:c.*42_*44del ENSP00000335400.3:n.*42_*44del
ENST00000394222.7:c.190_192del ENSP00000377769.3:p.Lys64del
ENST00000460371.5:c.130+7774_130+7776del ENSP00000417263.1:n.130+7774_130+7776del
ENST00000471138.5:c.190_192del ENSP00000420780.1:p.Lys64del
ENST00000475206.2:n.481_483del
ENST00000475206.3:n.422_424del
ENST00000486562.1:n.336+7774_336+7776del
ENST00000486562.2:c.59+23236_59+23238del ENSP00000505366.1:n.59+23236_59+23238del
ENST00000492165.2:n.255_257del
ENST00000492165.3:n.472_474del
ENST00000535334.5:c.-120_-118del ENSP00000445145.1:n.-120_-118del
ENST00000679404.1:c.115_117del ENSP00000505252.1:p.Lys39del
ENST00000679587.1:c.190_192del ENSP00000505396.1:p.Lys64del
ENST00000679601.1:c.*42_*44del ENSP00000506200.1:n.*42_*44del
ENST00000679607.1:c.-458+15007_-458+15009del ENSP00000505148.1:n.-458+15007_-458+15009del
ENST00000679654.1:c.252+7034_252+7036del ENSP00000505178.1:n.252+7034_252+7036del
ENST00000679657.1:c.-33+23236_-33+23238del ENSP00000505494.1:n.-33+23236_-33+23238del
ENST00000679666.1:c.8+14602_8+14604del ENSP00000506469.1:n.8+14602_8+14604del
ENST00000679739.1:c.-120_-118del ENSP00000506703.1:n.-120_-118del
ENST00000679872.1:c.139_141del ENSP00000505607.1:p.Lys47del
ENST00000680414.1:c.*42_*44del ENSP00000506063.1:n.*42_*44del
ENST00000680430.1:c.439_441del ENSP00000504943.1:n.439_441del
ENST00000680994.1:n.410+7774_410+7776del
ENST00000681013.1:c.190_192del ENSP00000506243.1:p.Lys64del
ENST00000681247.1:c.59+23236_59+23238del ENSP00000505168.1:n.59+23236_59+23238del
ENST00000681380.1:c.190_192del ENSP00000505402.1:p.Lys64del
ENST00000681655.1:c.115_117del ENSP00000505036.1:p.Lys39del
XM_006713531.2:c.145_147del XP_006713594.1:p.Lys49del
XM_006713532.2:c.145_147del XP_006713595.1:p.Lys49del
XM_006713532.3:c.145_147del XP_006713595.1:p.Lys49del
XM_011512532.1:c.154_156del XP_011510834.1:p.Lys52del
XM_011512532.2:c.154_156del XP_011510834.1:p.Lys52del
XM_011512533.1:c.154_156del XP_011510835.1:p.Lys52del
XM_011512533.2:c.154_156del XP_011510835.1:p.Lys52del
XM_011512534.1:c.145_147del XP_011510836.1:p.Lys49del
XM_011512534.2:c.145_147del XP_011510836.1:p.Lys49del
XM_011512535.1:c.115_117del XP_011510837.1:p.Lys39del
XM_011512535.2:c.115_117del XP_011510837.1:p.Lys39del
XM_011512536.1:c.-120_-118del XP_011510838.1:n.-120_-118del
XM_017005853.1:c.-120_-118del XP_016861342.1:n.-120_-118del