Canonical Allele Identifier: CA2697558842

Gene: ATM

Linked Data

• ClinVar Variation Id: 2699230
• ClinVar RCV Id: RCV003501046

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302915del , CM000673.2:g.108302915del	GRCh38
NC_000011.9:g.108173642del , CM000673.1:g.108173642del	GRCh37
NC_000011.8:g.107678852del	NCBI36
NG_009830.1:g.85084del , LRG_135:g.85084del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5382del	ENSP00000388058.2:p.Trp1795GlyfsTer4
ENST00000713593.1:c.*4853del	ENSP00000518889.1:n.*4853del
ENST00000278616.9:c.5382del	ENSP00000278616.4:p.Trp1795GlyfsTer4
ENST00000683174.1:n.6866del
ENST00000683524.1:n.606del
ENST00000684152.1:n.1096del
ENST00000527805.6:c.*446del	ENSP00000435747.2:n.*446del
ENST00000675595.1:c.*446del	ENSP00000502563.1:n.*446del
ENST00000675843.1:c.5382del MANE Select	ENSP00000501606.1:p.Trp1795GlyfsTer4
ENST00000278616.8:c.5382del	ENSP00000278616.4:p.Trp1795GlyfsTer4
ENST00000452508.6:c.5382del	ENSP00000388058.2:p.Trp1795GlyfsTer4
ENST00000524792.5:n.1597del
ENST00000533690.5:n.786del
ENST00000534625.1:n.611del
NM_000051.3:c.5382del , LRG_135t1:c.5382del	NP_000042.3:p.Trp1795GlyfsTer4
XM_005271561.3:c.5382del	XP_005271618.2:p.Trp1795GlyfsTer4
XM_005271562.3:c.5382del	XP_005271619.2:p.Trp1795GlyfsTer4
XM_006718843.2:c.5382del	XP_006718906.1:p.Trp1795GlyfsTer4
XM_006718845.1:c.1338del	XP_006718908.1:p.Trp447GlyfsTer4
XM_011542840.1:c.5382del	XP_011541142.1:p.Trp1795GlyfsTer4
XM_011542841.1:c.5382del	XP_011541143.1:p.Trp1795GlyfsTer4
XM_011542842.1:c.5217del	XP_011541144.1:p.Trp1740GlyfsTer4
XM_011542843.1:c.5382del	XP_011541145.1:p.Trp1795GlyfsTer4
XM_011542844.1:c.4338del	XP_011541146.1:p.Trp1447GlyfsTer4
XM_011542845.1:c.4074del	XP_011541147.1:p.Trp1359GlyfsTer4
XM_011542846.1:c.*40del	XP_011541148.1:n.*40del
XM_011542847.1:c.453del	XP_011541149.1:p.Trp152GlyfsTer4
NM_001351834.1:c.5382del	NP_001338763.1:p.Trp1795GlyfsTer4
XM_005271562.5:c.5382del	XP_005271619.2:p.Trp1795GlyfsTer4
XM_006718843.4:c.5382del	XP_006718906.1:p.Trp1795GlyfsTer4
XM_006718845.2:c.1338del	XP_006718908.1:p.Trp447GlyfsTer4
XM_011542840.3:c.5382del	XP_011541142.1:p.Trp1795GlyfsTer4
XM_011542842.3:c.5217del	XP_011541144.1:p.Trp1740GlyfsTer4
XM_011542843.2:c.5382del	XP_011541145.1:p.Trp1795GlyfsTer4
XM_011542844.3:c.4338del	XP_011541146.1:p.Trp1447GlyfsTer4
XM_011542845.2:c.4074del	XP_011541147.1:p.Trp1359GlyfsTer4
XM_017017789.2:c.5382del	XP_016873278.1:p.Trp1795GlyfsTer4
XM_017017790.2:c.5382del	XP_016873279.1:p.Trp1795GlyfsTer4
XM_017017791.1:c.5382del	XP_016873280.1:p.Trp1795GlyfsTer4
XM_017017792.2:c.*63del	XP_016873281.1:n.*63del
XR_002957150.1:n.5982del
NM_001351834.2:c.5382del	NP_001338763.1:p.Trp1795GlyfsTer4
NM_000051.4:c.5382del MANE Select	NP_000042.3:p.Trp1795GlyfsTer4