Canonical Allele Identifier: CA2499220570

Gene: ATM

Linked Data

• ClinVar Variation Id: 1073937
• ClinVar RCV Id: RCV001387079
• dbSNP Id: rs2135338847

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251843_108251874del , CM000673.2:g.108251843_108251874del	GRCh38
NC_000011.9:g.108122570_108122601del , CM000673.1:g.108122570_108122601del	GRCh37
NC_000011.8:g.107627780_107627811del	NCBI36
NG_009830.1:g.34012_34043del , LRG_135:g.34012_34043del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.1614_1645del	ENSP00000388058.2:p.Val539TyrfsTer16
ENST00000713593.1:c.*1085_*1116del	ENSP00000518889.1:n.*1085_*1116del
ENST00000278616.9:c.1614_1645del	ENSP00000278616.4:p.Val539TyrfsTer16
ENST00000682516.1:n.1748_1779del
ENST00000683174.1:n.1764_1795del
ENST00000683605.1:n.1109_1140del
ENST00000684037.1:c.*549_*580del	ENSP00000508245.1:n.*549_*580del
ENST00000684061.1:n.1748_1779del
ENST00000527805.6:c.1614_1645del	ENSP00000435747.2:p.Val539TyrfsTer16
ENST00000675595.1:c.1449_1480del	ENSP00000502563.1:p.Val484TyrfsTer16
ENST00000675843.1:c.1614_1645del MANE Select	ENSP00000501606.1:p.Val539TyrfsTer16
ENST00000278616.8:c.1614_1645del	ENSP00000278616.4:p.Val539TyrfsTer16
ENST00000452508.6:c.1614_1645del	ENSP00000388058.2:p.Val539TyrfsTer16
ENST00000527805.5:c.1614_1645del	ENSP00000435747.1:p.Val539TyrfsTer16
NM_000051.3:c.1614_1645del , LRG_135t1:c.1614_1645del	NP_000042.3:p.Val539TyrfsTer16
XM_005271561.3:c.1614_1645del	XP_005271618.2:p.Val539TyrfsTer16
XM_005271562.3:c.1614_1645del	XP_005271619.2:p.Val539TyrfsTer16
XM_006718843.2:c.1614_1645del	XP_006718906.1:p.Val539TyrfsTer16
XM_011542840.1:c.1614_1645del	XP_011541142.1:p.Val539TyrfsTer16
XM_011542841.1:c.1614_1645del	XP_011541143.1:p.Val539TyrfsTer16
XM_011542842.1:c.1449_1480del	XP_011541144.1:p.Val484TyrfsTer16
XM_011542843.1:c.1614_1645del	XP_011541145.1:p.Val539TyrfsTer16
XM_011542844.1:c.570_601del	XP_011541146.1:p.Val191TyrfsTer16
XM_011542845.1:c.306_337del	XP_011541147.1:p.Val103TyrfsTer16
XM_011542846.1:c.1614_1645del	XP_011541148.1:p.Val539TyrfsTer16
NM_001351834.1:c.1614_1645del	NP_001338763.1:p.Val539TyrfsTer16
XM_005271562.5:c.1614_1645del	XP_005271619.2:p.Val539TyrfsTer16
XM_006718843.4:c.1614_1645del	XP_006718906.1:p.Val539TyrfsTer16
XM_011542840.3:c.1614_1645del	XP_011541142.1:p.Val539TyrfsTer16
XM_011542842.3:c.1449_1480del	XP_011541144.1:p.Val484TyrfsTer16
XM_011542843.2:c.1614_1645del	XP_011541145.1:p.Val539TyrfsTer16
XM_011542844.3:c.570_601del	XP_011541146.1:p.Val191TyrfsTer16
XM_011542845.2:c.306_337del	XP_011541147.1:p.Val103TyrfsTer16
XM_017017789.2:c.1614_1645del	XP_016873278.1:p.Val539TyrfsTer16
XM_017017790.2:c.1614_1645del	XP_016873279.1:p.Val539TyrfsTer16
XM_017017791.1:c.1614_1645del	XP_016873280.1:p.Val539TyrfsTer16
XM_017017792.2:c.1614_1645del	XP_016873281.1:p.Val539TyrfsTer16
XR_002957150.1:n.2347_2378del
NM_001351834.2:c.1614_1645del	NP_001338763.1:p.Val539TyrfsTer16
NM_000051.4:c.1614_1645del MANE Select	NP_000042.3:p.Val539TyrfsTer16