Canonical Allele Identifier: CA1139662299

Gene: ATM

Linked Data

• ClinVar Variation Id: 952408
• ClinVar RCV Id: RCV001224516 ; RCV003584861 ; RCV004032513
• dbSNP Id: rs2082638431

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108288982del , CM000673.2:g.108288982del	GRCh38
NC_000011.9:g.108159709del , CM000673.1:g.108159709del	GRCh37
NC_000011.8:g.107664919del	NCBI36
NG_009830.1:g.71151del , LRG_135:g.71151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4115del	ENSP00000388058.2:p.Leu1372TrpfsTer14
ENST00000713593.1:c.*3586del	ENSP00000518889.1:n.*3586del
ENST00000278616.9:c.4115del	ENSP00000278616.4:p.Leu1372TrpfsTer14
ENST00000533733.6:n.1378del
ENST00000683174.1:n.4265del
ENST00000527805.6:c.4115del	ENSP00000435747.2:p.Leu1372TrpfsTer14
ENST00000675595.1:c.3950del	ENSP00000502563.1:p.Leu1317TrpfsTer14
ENST00000675843.1:c.4115del MANE Select	ENSP00000501606.1:p.Leu1372TrpfsTer14
ENST00000278616.8:c.4115del	ENSP00000278616.4:p.Leu1372TrpfsTer14
ENST00000452508.6:c.4115del	ENSP00000388058.2:p.Leu1372TrpfsTer14
ENST00000524792.5:n.330del
ENST00000531525.2:c.122del	ENSP00000434327.2:p.Leu41TrpfsTer14
ENST00000533733.5:n.544del
NM_000051.3:c.4115del , LRG_135t1:c.4115del	NP_000042.3:p.Leu1372TrpfsTer14
XM_005271561.3:c.4115del	XP_005271618.2:p.Leu1372TrpfsTer14
XM_005271562.3:c.4115del	XP_005271619.2:p.Leu1372TrpfsTer14
XM_006718843.2:c.4115del	XP_006718906.1:p.Leu1372TrpfsTer14
XM_006718845.1:c.71del	XP_006718908.1:p.Leu24TrpfsTer14
XM_011542840.1:c.4115del	XP_011541142.1:p.Leu1372TrpfsTer14
XM_011542841.1:c.4115del	XP_011541143.1:p.Leu1372TrpfsTer14
XM_011542842.1:c.3950del	XP_011541144.1:p.Leu1317TrpfsTer14
XM_011542843.1:c.4115del	XP_011541145.1:p.Leu1372TrpfsTer14
XM_011542844.1:c.3071del	XP_011541146.1:p.Leu1024TrpfsTer14
XM_011542845.1:c.2807del	XP_011541147.1:p.Leu936TrpfsTer14
XM_011542846.1:c.4115del	XP_011541148.1:p.Leu1372TrpfsTer14
NM_001351834.1:c.4115del	NP_001338763.1:p.Leu1372TrpfsTer14
XM_005271562.5:c.4115del	XP_005271619.2:p.Leu1372TrpfsTer14
XM_006718843.4:c.4115del	XP_006718906.1:p.Leu1372TrpfsTer14
XM_006718845.2:c.71del	XP_006718908.1:p.Leu24TrpfsTer14
XM_011542840.3:c.4115del	XP_011541142.1:p.Leu1372TrpfsTer14
XM_011542842.3:c.3950del	XP_011541144.1:p.Leu1317TrpfsTer14
XM_011542843.2:c.4115del	XP_011541145.1:p.Leu1372TrpfsTer14
XM_011542844.3:c.3071del	XP_011541146.1:p.Leu1024TrpfsTer14
XM_011542845.2:c.2807del	XP_011541147.1:p.Leu936TrpfsTer14
XM_017017789.2:c.4115del	XP_016873278.1:p.Leu1372TrpfsTer14
XM_017017790.2:c.4115del	XP_016873279.1:p.Leu1372TrpfsTer14
XM_017017791.1:c.4115del	XP_016873280.1:p.Leu1372TrpfsTer14
XM_017017792.2:c.4115del	XP_016873281.1:p.Leu1372TrpfsTer14
XR_002957150.1:n.4848del
NM_001351834.2:c.4115del	NP_001338763.1:p.Leu1372TrpfsTer14
NM_000051.4:c.4115del MANE Select	NP_000042.3:p.Leu1372TrpfsTer14