Canonical Allele Identifier: CA2975609202
Community Standard Title: NM_000051.4(ATM):c.1264_1265del (p.Lys422ValfsTer7)
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108250729_108250730del , CM000673.2:g.108250729_108250730del GRCh38
NC_000011.9:g.108121456_108121457del , CM000673.1:g.108121456_108121457del GRCh37
NC_000011.8:g.107626666_107626667del NCBI36
NG_009830.1:g.32898_32899del , LRG_135:g.32898_32899del

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.1264_1265del MANE Select NP_000042.3:p.Lys422ValfsTer7
ENST00000675843.1:c.1264_1265del MANE Select ENSP00000501606.1:p.Lys422ValfsTer7
NM_000051.3:c.1264_1265del , LRG_135t1:c.1264_1265del NP_000042.3:p.Lys422ValfsTer7
NM_001351834.1:c.1264_1265del NP_001338763.1:p.Lys422ValfsTer7
NM_001351834.2:c.1264_1265del NP_001338763.1:p.Lys422ValfsTer7
ENST00000278616.8:c.1264_1265del ENSP00000278616.4:p.Lys422ValfsTer7
ENST00000278616.9:c.1264_1265del ENSP00000278616.4:p.Lys422ValfsTer7
ENST00000452508.6:c.1264_1265del ENSP00000388058.2:p.Lys422ValfsTer7
ENST00000452508.7:c.1264_1265del ENSP00000388058.2:p.Lys422ValfsTer7
ENST00000527805.5:c.1264_1265del ENSP00000435747.1:p.Lys422ValfsTer7
ENST00000527805.6:c.1264_1265del ENSP00000435747.2:p.Lys422ValfsTer7
ENST00000675595.1:c.1099_1100del ENSP00000502563.1:p.Lys367ValfsTer7
ENST00000682516.1:n.1398_1399del
ENST00000682956.1:n.1398_1399del
ENST00000683174.1:n.1414_1415del
ENST00000683605.1:n.759_760del
ENST00000684037.1:c.*199_*200del ENSP00000508245.1:n.*199_*200del
ENST00000684061.1:n.1398_1399del
ENST00000684179.1:n.1233_1234del
ENST00000713593.1:c.*735_*736del ENSP00000518889.1:n.*735_*736del
XM_005271561.3:c.1264_1265del XP_005271618.2:p.Lys422ValfsTer7
XM_005271562.3:c.1264_1265del XP_005271619.2:p.Lys422ValfsTer7
XM_005271562.5:c.1264_1265del XP_005271619.2:p.Lys422ValfsTer7
XM_006718843.2:c.1264_1265del XP_006718906.1:p.Lys422ValfsTer7
XM_006718843.4:c.1264_1265del XP_006718906.1:p.Lys422ValfsTer7
XM_011542840.1:c.1264_1265del XP_011541142.1:p.Lys422ValfsTer7
XM_011542840.3:c.1264_1265del XP_011541142.1:p.Lys422ValfsTer7
XM_011542841.1:c.1264_1265del XP_011541143.1:p.Lys422ValfsTer7
XM_011542842.1:c.1099_1100del XP_011541144.1:p.Lys367ValfsTer7
XM_011542842.3:c.1099_1100del XP_011541144.1:p.Lys367ValfsTer7
XM_011542843.1:c.1264_1265del XP_011541145.1:p.Lys422ValfsTer7
XM_011542843.2:c.1264_1265del XP_011541145.1:p.Lys422ValfsTer7
XM_011542844.1:c.220_221del XP_011541146.1:p.Lys74ValfsTer7
XM_011542844.3:c.220_221del XP_011541146.1:p.Lys74ValfsTer7
XM_011542845.1:c.-45_-44del XP_011541147.1:n.-45_-44del
XM_011542845.2:c.-45_-44del XP_011541147.1:n.-45_-44del
XM_011542846.1:c.1264_1265del XP_011541148.1:p.Lys422ValfsTer7
XM_017017789.2:c.1264_1265del XP_016873278.1:p.Lys422ValfsTer7
XM_017017790.2:c.1264_1265del XP_016873279.1:p.Lys422ValfsTer7
XM_017017791.1:c.1264_1265del XP_016873280.1:p.Lys422ValfsTer7
XM_017017792.2:c.1264_1265del XP_016873281.1:p.Lys422ValfsTer7
XR_002957150.1:n.1997_1998del