Canonical Allele Identifier: CA658656260

Gene: ATM

Linked Data

• ClinVar Variation Id: 481281
• ClinVar RCV Id: RCV000561028 ; RCV002526817
• dbSNP Id: rs1555107450
• MyVariant Identifiers: chr11:g.108175499_108175500del (hg19) ; chr11:g.108304772_108304773del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304772_108304773del , CM000673.2:g.108304772_108304773del	GRCh38
NC_000011.9:g.108175499_108175500del , CM000673.1:g.108175499_108175500del	GRCh37
NC_000011.8:g.107680709_107680710del	NCBI36
NG_009830.1:g.86941_86942del , LRG_135:g.86941_86942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5594_5595del	ENSP00000388058.2:p.His1865ArgfsTer?
ENST00000713593.1:c.*5065_*5066del	ENSP00000518889.1:n.*5065_*5066del
ENST00000278616.9:c.5594_5595del	ENSP00000278616.4:p.His1865ArgfsTer?
ENST00000683174.1:n.7078_7079del
ENST00000683524.1:n.818_819del
ENST00000684152.1:n.1308_1309del
ENST00000527805.6:c.*658_*659del	ENSP00000435747.2:n.*658_*659del
ENST00000675595.1:c.*658_*659del	ENSP00000502563.1:n.*658_*659del
ENST00000675843.1:c.5594_5595del MANE Select	ENSP00000501606.1:p.His1865ArgfsTer?
ENST00000278616.8:c.5594_5595del	ENSP00000278616.4:p.His1865ArgfsTer?
ENST00000452508.6:c.5594_5595del	ENSP00000388058.2:p.His1865ArgfsTer?
ENST00000524792.5:n.1809_1810del
ENST00000529588.5:c.106_107del
ENST00000533690.5:n.998_999del
NM_000051.3:c.5594_5595del , LRG_135t1:c.5594_5595del	NP_000042.3:p.His1865ArgfsTer?
XM_005271561.3:c.5594_5595del	XP_005271618.2:p.His1865ArgfsTer?
XM_005271562.3:c.5594_5595del	XP_005271619.2:p.His1865ArgfsTer?
XM_006718843.2:c.5594_5595del	XP_006718906.1:p.His1865ArgfsTer?
XM_006718845.1:c.1550_1551del	XP_006718908.1:p.His517ArgfsTer?
XM_011542840.1:c.5594_5595del	XP_011541142.1:p.His1865ArgfsTer?
XM_011542841.1:c.5594_5595del	XP_011541143.1:p.His1865ArgfsTer?
XM_011542842.1:c.5429_5430del	XP_011541144.1:p.His1810ArgfsTer?
XM_011542843.1:c.5594_5595del	XP_011541145.1:p.His1865ArgfsTer?
XM_011542844.1:c.4550_4551del	XP_011541146.1:p.His1517ArgfsTer?
XM_011542845.1:c.4286_4287del	XP_011541147.1:p.His1429ArgfsTer?
XM_011542847.1:c.665_666del	XP_011541149.1:p.His222ArgfsTer?
NM_001351834.1:c.5594_5595del	NP_001338763.1:p.His1865ArgfsTer?
XM_005271562.5:c.5594_5595del	XP_005271619.2:p.His1865ArgfsTer?
XM_006718843.4:c.5594_5595del	XP_006718906.1:p.His1865ArgfsTer?
XM_006718845.2:c.1550_1551del	XP_006718908.1:p.His517ArgfsTer?
XM_011542840.3:c.5594_5595del	XP_011541142.1:p.His1865ArgfsTer?
XM_011542842.3:c.5429_5430del	XP_011541144.1:p.His1810ArgfsTer?
XM_011542843.2:c.5594_5595del	XP_011541145.1:p.His1865ArgfsTer?
XM_011542844.3:c.4550_4551del	XP_011541146.1:p.His1517ArgfsTer?
XM_011542845.2:c.4286_4287del	XP_011541147.1:p.His1429ArgfsTer?
XM_017017789.2:c.5594_5595del	XP_016873278.1:p.His1865ArgfsTer?
XM_017017790.2:c.5594_5595del	XP_016873279.1:p.His1865ArgfsTer?
XM_017017791.1:c.5594_5595del	XP_016873280.1:p.His1865ArgfsTer?
XR_002957150.1:n.6194_6195del
NM_001351834.2:c.5594_5595del	NP_001338763.1:p.His1865ArgfsTer?
NM_000051.4:c.5594_5595del MANE Select	NP_000042.3:p.His1865ArgfsTer?