Canonical Allele Identifier: CA16612981
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407571
dbSNP Id: rs1060501609

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108249079_108249080del , CM000673.2:g.108249079_108249080del GRCh38
NC_000011.9:g.108119806_108119807del , CM000673.1:g.108119806_108119807del GRCh37
NC_000011.8:g.107625016_107625017del NCBI36
NG_009830.1:g.31248_31249del , LRG_135:g.31248_31249del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.1212_1213del ENSP00000388058.2:p.Asn405Ter
ENST00000713593.1:c.*683_*684del ENSP00000518889.1:n.*683_*684del
ENST00000278616.9:c.1212_1213del ENSP00000278616.4:p.Asn405Ter
ENST00000682516.1:n.1346_1347del
ENST00000682956.1:n.1346_1347del
ENST00000683174.1:n.1362_1363del
ENST00000683605.1:n.707_708del
ENST00000684037.1:c.*147_*148del ENSP00000508245.1:n.*147_*148del
ENST00000684061.1:n.1346_1347del
ENST00000684179.1:n.1181_1182del
ENST00000527805.6:c.1212_1213del ENSP00000435747.2:p.Asn405Ter
ENST00000675595.1:c.1047_1048del ENSP00000502563.1:p.Asn350Ter
ENST00000675843.1:c.1212_1213del MANE Select ENSP00000501606.1:p.Asn405Ter
ENST00000278616.8:c.1212_1213del ENSP00000278616.4:p.Asn405Ter
ENST00000452508.6:c.1212_1213del ENSP00000388058.2:p.Asn405Ter
ENST00000527805.5:c.1212_1213del ENSP00000435747.1:p.Asn405Ter
NM_000051.3:c.1212_1213del , LRG_135t1:c.1212_1213del NP_000042.3:p.Asn405Ter
XM_005271561.3:c.1212_1213del XP_005271618.2:p.Asn405Ter
XM_005271562.3:c.1212_1213del XP_005271619.2:p.Asn405Ter
XM_006718843.2:c.1212_1213del XP_006718906.1:p.Asn405Ter
XM_011542840.1:c.1212_1213del XP_011541142.1:p.Asn405Ter
XM_011542841.1:c.1212_1213del XP_011541143.1:p.Asn405Ter
XM_011542842.1:c.1047_1048del XP_011541144.1:p.Asn350Ter
XM_011542843.1:c.1212_1213del XP_011541145.1:p.Asn405Ter
XM_011542844.1:c.168_169del XP_011541146.1:p.Asn57Ter
XM_011542845.1:c.-73-1622_-73-1621del XP_011541147.1:n.-73-1622_-73-1621del
XM_011542846.1:c.1212_1213del XP_011541148.1:p.Asn405Ter
NM_001351834.1:c.1212_1213del NP_001338763.1:p.Asn405Ter
XM_005271562.5:c.1212_1213del XP_005271619.2:p.Asn405Ter
XM_006718843.4:c.1212_1213del XP_006718906.1:p.Asn405Ter
XM_011542840.3:c.1212_1213del XP_011541142.1:p.Asn405Ter
XM_011542842.3:c.1047_1048del XP_011541144.1:p.Asn350Ter
XM_011542843.2:c.1212_1213del XP_011541145.1:p.Asn405Ter
XM_011542844.3:c.168_169del XP_011541146.1:p.Asn57Ter
XM_011542845.2:c.-73-1622_-73-1621del XP_011541147.1:n.-73-1622_-73-1621del
XM_017017789.2:c.1212_1213del XP_016873278.1:p.Asn405Ter
XM_017017790.2:c.1212_1213del XP_016873279.1:p.Asn405Ter
XM_017017791.1:c.1212_1213del XP_016873280.1:p.Asn405Ter
XM_017017792.2:c.1212_1213del XP_016873281.1:p.Asn405Ter
XR_002957150.1:n.1945_1946del
NM_001351834.2:c.1212_1213del NP_001338763.1:p.Asn405Ter
NM_000051.4:c.1212_1213del MANE Select NP_000042.3:p.Asn405Ter