Canonical Allele Identifier: CA214612
Community Standard Title: NM_001082486.2(ACD):c.250_252del (p.Lys84del)
Gene: ACD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67659788_67659790del , CM000678.2:g.67659788_67659790del GRCh38
NC_000016.9:g.67693691_67693693del , CM000678.1:g.67693691_67693693del GRCh37
NC_000016.8:g.66251192_66251194del NCBI36
NG_042874.1:g.6028_6030del

Transcript Alleles

HGVS Amino-acid Change
NM_001082486.2:c.250_252del MANE Select NP_001075955.2:p.Lys84del
ENST00000620761.6:c.250_252del MANE Select ENSP00000478084.1:p.Lys84del
NM_001082486.1:c.508_510del NP_001075955.1:p.Lys170del
NM_001082487.1:c.499_501del NP_001075956.1:p.Lys167del
NM_022914.2:c.499_501del NP_075065.2:p.Lys167del
NM_022914.3:c.241_243del NP_075065.3:p.Lys81del
ENST00000219251.12:c.499_501del ENSP00000219251.7:p.Lys167del
ENST00000219251.13:c.241_243del ENSP00000219251.8:p.Lys81del
ENST00000393919.8:c.508_510del ENSP00000377496.4:p.Lys170del
ENST00000602320.1:c.241_243del ENSP00000473679.2:p.Lys81del
ENST00000602382.6:c.250_252del ENSP00000473313.2:p.Lys84del
ENST00000602423.1:n.151_153del
ENST00000602519.1:n.262_264del
ENST00000602519.2:n.275_277del
ENST00000602622.5:n.403_405del
ENST00000602780.1:n.409_411del
ENST00000602780.2:n.409_411del
ENST00000602821.1:n.403_405del
ENST00000602850.5:c.81_83del ENSP00000473595.2:n.81_83del
ENST00000602850.6:c.*30_*32del ENSP00000473595.3:n.*30_*32del
ENST00000602860.5:n.311_313del
ENST00000602860.6:n.793_795del
ENST00000602945.5:n.320_322del
ENST00000602945.6:n.392_394del
ENST00000620338.4:c.508_510del ENSP00000483117.1:p.Lys170del
ENST00000620761.4:c.250_252del ENSP00000478084.1:p.Lys84del
ENST00000695641.1:n.790_792del
ENST00000695648.1:c.250_252del ENSP00000512081.1:p.Lys84del
ENST00000695649.1:n.866_868del
ENST00000695650.1:c.*30_*32del ENSP00000512082.1:n.*30_*32del
ENST00000695656.1:n.320_322del
ENST00000695657.1:n.278_280del
ENST00000695658.1:c.250_252del ENSP00000512088.1:p.Lys84del
ENST00000695659.1:c.250_252del ENSP00000512089.1:p.Lys84del
ENST00000695660.1:n.386_388del
ENST00000695661.1:c.241_243del ENSP00000512090.1:p.Lys81del
ENST00000695662.1:c.250_252del ENSP00000512091.1:p.Lys84del
ENST00000695663.1:n.382_384del
ENST00000695694.1:c.250_252del ENSP00000512105.1:p.Lys84del
ENST00000695695.1:n.396_398del
ENST00000695696.1:n.254_256del
ENST00000695697.1:c.250_252del ENSP00000512106.1:p.Lys84del
ENST00000695698.1:n.272_274del
ENST00000695699.1:n.278_280del
ENST00000695700.1:n.238_240del
ENST00000695701.1:n.256_258del
ENST00000695710.1:n.126_128del
ENST00000695711.1:c.250_252del ENSP00000512109.1:p.Lys84del
ENST00000695712.1:c.243_*2del
ENST00000695732.1:c.250_252del ENSP00000512125.1:p.Lys84del
ENST00000695733.1:c.250_252del ENSP00000512126.1:p.Lys84del
ENST00000695734.1:c.250_252del ENSP00000512127.1:p.Lys84del
XM_005256115.2:c.508_510del XP_005256172.1:p.Lys170del
XM_005256115.4:c.508_510del XP_005256172.1:p.Lys170del
XR_429727.2:n.845_847del
XR_429727.3:n.858_860del
XR_429728.2:n.845_847del
XR_429728.3:n.862_864del