Canonical Allele Identifier: CA16613061
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407656
ClinVar RCV Id: RCV000474359
dbSNP Id: rs1060501659

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108294950_108294953del , CM000673.2:g.108294950_108294953del GRCh38
NC_000011.9:g.108165677_108165680del , CM000673.1:g.108165677_108165680del GRCh37
NC_000011.8:g.107670887_107670890del NCBI36
NG_009830.1:g.77119_77122del , LRG_135:g.77119_77122del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.4800_4803del ENSP00000388058.2:p.Ser1601PhefsTer7
ENST00000713593.1:c.*4271_*4274del ENSP00000518889.1:n.*4271_*4274del
ENST00000278616.9:c.4800_4803del ENSP00000278616.4:p.Ser1601PhefsTer7
ENST00000683174.1:n.4950_4953del
ENST00000683524.1:n.133+1473_133+1476del
ENST00000527805.6:c.4611+2157_4611+2160del ENSP00000435747.2:n.4611+2157_4611+2160de...
ENST00000675595.1:c.4611+1473_4611+1476del ENSP00000502563.1:n.4611+1473_4611+1476de...
ENST00000675843.1:c.4800_4803del MANE Select ENSP00000501606.1:p.Ser1601PhefsTer7
ENST00000278616.8:c.4800_4803del ENSP00000278616.4:p.Ser1601PhefsTer7
ENST00000452508.6:c.4800_4803del ENSP00000388058.2:p.Ser1601PhefsTer7
ENST00000524792.5:n.1015_1018del
ENST00000531525.2:c.467_470del ENSP00000434327.2:n.[c.467_470del;Ter156C...
ENST00000531957.1:n.117_120del
NM_000051.3:c.4800_4803del , LRG_135t1:c.4800_4803del NP_000042.3:p.Ser1601PhefsTer7
XM_005271561.3:c.4800_4803del XP_005271618.2:p.Ser1601PhefsTer7
XM_005271562.3:c.4800_4803del XP_005271619.2:p.Ser1601PhefsTer7
XM_006718843.2:c.4800_4803del XP_006718906.1:p.Ser1601PhefsTer7
XM_006718845.1:c.756_759del XP_006718908.1:p.Ser253PhefsTer7
XM_011542840.1:c.4800_4803del XP_011541142.1:p.Ser1601PhefsTer7
XM_011542841.1:c.4800_4803del XP_011541143.1:p.Ser1601PhefsTer7
XM_011542842.1:c.4635_4638del XP_011541144.1:p.Ser1546PhefsTer7
XM_011542843.1:c.4800_4803del XP_011541145.1:p.Ser1601PhefsTer7
XM_011542844.1:c.3756_3759del XP_011541146.1:p.Ser1253PhefsTer7
XM_011542845.1:c.3492_3495del XP_011541147.1:p.Ser1165PhefsTer7
XM_011542846.1:c.4800_4803del XP_011541148.1:p.Ser1601PhefsTer7
NM_001351834.1:c.4800_4803del NP_001338763.1:p.Ser1601PhefsTer7
XM_005271562.5:c.4800_4803del XP_005271619.2:p.Ser1601PhefsTer7
XM_006718843.4:c.4800_4803del XP_006718906.1:p.Ser1601PhefsTer7
XM_006718845.2:c.756_759del XP_006718908.1:p.Ser253PhefsTer7
XM_011542840.3:c.4800_4803del XP_011541142.1:p.Ser1601PhefsTer7
XM_011542842.3:c.4635_4638del XP_011541144.1:p.Ser1546PhefsTer7
XM_011542843.2:c.4800_4803del XP_011541145.1:p.Ser1601PhefsTer7
XM_011542844.3:c.3756_3759del XP_011541146.1:p.Ser1253PhefsTer7
XM_011542845.2:c.3492_3495del XP_011541147.1:p.Ser1165PhefsTer7
XM_017017789.2:c.4800_4803del XP_016873278.1:p.Ser1601PhefsTer7
XM_017017790.2:c.4800_4803del XP_016873279.1:p.Ser1601PhefsTer7
XM_017017791.1:c.4800_4803del XP_016873280.1:p.Ser1601PhefsTer7
XM_017017792.2:c.4800_4803del XP_016873281.1:p.Ser1601PhefsTer7
XR_002957150.1:n.5509+1473_5509+1476del
NM_001351834.2:c.4800_4803del NP_001338763.1:p.Ser1601PhefsTer7
NM_000051.4:c.4800_4803del MANE Select NP_000042.3:p.Ser1601PhefsTer7