Canonical Allele Identifier: CA10584340

Gene: ATM

Linked Data

• ClinVar Variation Id: 246275
• ClinVar RCV Id: RCV000236151 ; RCV000573604 ; RCV000807392 ; RCV004020933
• dbSNP Id: rs879254189
• MyVariant Identifiers: chr11:g.108158437_108158438del (hg19) ; chr11:g.108287710_108287711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287710_108287711del , CM000673.2:g.108287710_108287711del	GRCh38
NC_000011.9:g.108158437_108158438del , CM000673.1:g.108158437_108158438del	GRCh37
NC_000011.8:g.107663647_107663648del	NCBI36
NG_009830.1:g.69879_69880del , LRG_135:g.69879_69880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4104_4105del	ENSP00000388058.2:p.Ser1369ArgfsTer8
ENST00000713593.1:c.*3575_*3576del	ENSP00000518889.1:n.*3575_*3576del
ENST00000278616.9:c.4104_4105del	ENSP00000278616.4:p.Ser1369ArgfsTer8
ENST00000533733.6:n.1367_1368del
ENST00000683174.1:n.4254_4255del
ENST00000527805.6:c.4104_4105del	ENSP00000435747.2:p.Ser1369ArgfsTer8
ENST00000675595.1:c.3939_3940del	ENSP00000502563.1:p.Ser1314ArgfsTer8
ENST00000675843.1:c.4104_4105del MANE Select	ENSP00000501606.1:p.Ser1369ArgfsTer8
ENST00000278616.8:c.4104_4105del	ENSP00000278616.4:p.Ser1369ArgfsTer8
ENST00000452508.6:c.4104_4105del	ENSP00000388058.2:p.Ser1369ArgfsTer8
ENST00000524792.5:n.319_320del
ENST00000527805.5:c.4104_4105del	ENSP00000435747.1:p.Phe1368=
ENST00000531525.2:c.111_112del	ENSP00000434327.2:p.Ser38ArgfsTer8
ENST00000533733.5:n.533_534del
NM_000051.3:c.4104_4105del , LRG_135t1:c.4104_4105del	NP_000042.3:p.Ser1369ArgfsTer8
XM_005271561.3:c.4104_4105del	XP_005271618.2:p.Ser1369ArgfsTer8
XM_005271562.3:c.4104_4105del	XP_005271619.2:p.Ser1369ArgfsTer8
XM_006718843.2:c.4104_4105del	XP_006718906.1:p.Ser1369ArgfsTer8
XM_006718845.1:c.60_61del	XP_006718908.1:p.Ser21ArgfsTer8
XM_011542840.1:c.4104_4105del	XP_011541142.1:p.Ser1369ArgfsTer8
XM_011542841.1:c.4104_4105del	XP_011541143.1:p.Ser1369ArgfsTer8
XM_011542842.1:c.3939_3940del	XP_011541144.1:p.Ser1314ArgfsTer8
XM_011542843.1:c.4104_4105del	XP_011541145.1:p.Ser1369ArgfsTer8
XM_011542844.1:c.3060_3061del	XP_011541146.1:p.Ser1021ArgfsTer8
XM_011542845.1:c.2796_2797del	XP_011541147.1:p.Ser933ArgfsTer8
XM_011542846.1:c.4104_4105del	XP_011541148.1:p.Ser1369ArgfsTer8
NM_001351834.1:c.4104_4105del	NP_001338763.1:p.Ser1369ArgfsTer8
XM_005271562.5:c.4104_4105del	XP_005271619.2:p.Ser1369ArgfsTer8
XM_006718843.4:c.4104_4105del	XP_006718906.1:p.Ser1369ArgfsTer8
XM_006718845.2:c.60_61del	XP_006718908.1:p.Ser21ArgfsTer8
XM_011542840.3:c.4104_4105del	XP_011541142.1:p.Ser1369ArgfsTer8
XM_011542842.3:c.3939_3940del	XP_011541144.1:p.Ser1314ArgfsTer8
XM_011542843.2:c.4104_4105del	XP_011541145.1:p.Ser1369ArgfsTer8
XM_011542844.3:c.3060_3061del	XP_011541146.1:p.Ser1021ArgfsTer8
XM_011542845.2:c.2796_2797del	XP_011541147.1:p.Ser933ArgfsTer8
XM_017017789.2:c.4104_4105del	XP_016873278.1:p.Ser1369ArgfsTer8
XM_017017790.2:c.4104_4105del	XP_016873279.1:p.Ser1369ArgfsTer8
XM_017017791.1:c.4104_4105del	XP_016873280.1:p.Ser1369ArgfsTer8
XM_017017792.2:c.4104_4105del	XP_016873281.1:p.Ser1369ArgfsTer8
XR_002957150.1:n.4837_4838del
NM_001351834.2:c.4104_4105del	NP_001338763.1:p.Ser1369ArgfsTer8
NM_000051.4:c.4104_4105del MANE Select	NP_000042.3:p.Ser1369ArgfsTer8