Canonical Allele Identifier: CA2580091822
Community Standard Title: NM_001082486.2(ACD):c.935_949del (p.Ser312_Pro317delinsThr)
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67658243_67658257del , CM000678.2:g.67658243_67658257del GRCh38
NC_000016.9:g.67692146_67692160del , CM000678.1:g.67692146_67692160del GRCh37
NC_000016.8:g.66249647_66249661del NCBI36
NG_042874.1:g.7559_7573del
NG_054728.1:g.18325_18339del

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.2:c.935_949del MANE Select NP_001075955.2:p.Ser312_Pro317delinsThr
ENST00000620761.6:c.935_949del MANE Select ENSP00000478084.1:p.Ser312_Pro317delinsThr
NM_001082486.1:c.1193_1207del NP_001075955.1:p.Ser398_Pro403delinsThr
NM_001082487.1:c.1184_1198del NP_001075956.1:p.Ser395_Pro400delinsThr
NM_022914.2:c.1184_1198del NP_075065.2:p.Ser395_Pro400delinsThr
NM_022914.3:c.926_940del NP_075065.3:p.Ser309_Pro314delinsThr
ENST00000219251.12:c.1184_1198del ENSP00000219251.7:p.Ser395_Pro400delinsThr
ENST00000219251.13:c.926_940del ENSP00000219251.8:p.Ser309_Pro314delinsThr
ENST00000393919.8:c.1193_1207del ENSP00000377496.4:p.Ser398_Pro403delinsThr
ENST00000602320.1:c.926_940del ENSP00000473679.2:p.Ser309_Pro314delinsThr
ENST00000602382.5:c.372-229_372-215del
ENST00000602382.6:c.830-229_830-215del ENSP00000473313.2:n.830-229_830-215del
ENST00000602622.5:n.1934_1948del
ENST00000602656.1:n.67_81del
ENST00000602780.2:n.1940_1954del
ENST00000602850.5:c.766_780del ENSP00000473595.2:n.766_780del
ENST00000602850.6:c.*715_*729del ENSP00000473595.3:n.*715_*729del
ENST00000602860.5:n.1373_1387del
ENST00000602860.6:n.1855_1869del
ENST00000620338.4:c.1193_1207del ENSP00000483117.1:p.Ser398_Pro403delinsThr
ENST00000620761.4:c.935_949del ENSP00000478084.1:p.Ser312_Pro317delinsThr
ENST00000695641.1:n.2044_2058del
ENST00000695648.1:c.917_931del ENSP00000512081.1:p.Ser306_Pro311delinsThr
ENST00000695649.1:n.2136_2150del
ENST00000695656.1:n.1763_1777del
ENST00000695657.1:n.1253_1267del
ENST00000695658.1:c.935_949del ENSP00000512088.1:p.Ser312_Pro317delinsThr
ENST00000695659.1:c.935_949del ENSP00000512089.1:p.Ser312_Pro317delinsThr
ENST00000695660.1:n.1559_1573del
ENST00000695662.1:c.*414_*428del ENSP00000512091.1:n.*414_*428del
ENST00000695694.1:c.890_904del ENSP00000512105.1:p.Ser297_Pro302delinsThr
ENST00000695695.1:n.1001_1015del
ENST00000695696.1:n.1211-229_1211-215del
ENST00000695697.1:c.848_862del ENSP00000512106.1:p.Ser283_Pro288delinsThr
ENST00000695698.1:n.1185_1199del
ENST00000695699.1:n.1223_1237del
ENST00000695700.1:n.1492_1506del
ENST00000695701.1:n.1334_1348del
ENST00000695709.1:n.481+298_481+312del
ENST00000695710.1:n.1569_1583del
ENST00000695711.1:c.*243_*257del ENSP00000512109.1:n.*243_*257del
ENST00000695712.1:c.*685_*699del ENSP00000512110.1:n.*685_*699del
ENST00000695731.1:c.258_272del
ENST00000695732.1:c.646-404_646-390del ENSP00000512125.1:n.646-404_646-390del
ENST00000695733.1:c.743-229_743-215del ENSP00000512126.1:n.743-229_743-215del
ENST00000695734.1:c.935_949del ENSP00000512127.1:p.Ser312_Pro317delinsThr
ENST00000695735.1:n.345_359del
XM_005256115.2:c.1106_1120del XP_005256172.1:p.Ser369_Pro374delinsThr
XM_005256115.4:c.1106_1120del XP_005256172.1:p.Ser369_Pro374delinsThr
XR_429727.2:n.1546_1560del
XR_429727.3:n.1559_1573del