Canonical Allele Identifier: CA2580083135

Gene: ATM

Linked Data

• ClinVar Variation Id: 1747513
• ClinVar RCV Id: RCV002349565

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302968_108302970del , CM000673.2:g.108302968_108302970del	GRCh38
NC_000011.9:g.108173695_108173697del , CM000673.1:g.108173695_108173697del	GRCh37
NC_000011.8:g.107678905_107678907del	NCBI36
NG_009830.1:g.85137_85139del , LRG_135:g.85137_85139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5435_5437del	ENSP00000388058.2:p.Ala1812_Phe1813delinsVal
ENST00000713593.1:c.*4906_*4908del	ENSP00000518889.1:n.*4906_*4908del
ENST00000278616.9:c.5435_5437del	ENSP00000278616.4:p.Ala1812_Phe1813delinsVal
ENST00000683174.1:n.6919_6921del
ENST00000683524.1:n.659_661del
ENST00000684152.1:n.1149_1151del
ENST00000527805.6:c.*499_*501del	ENSP00000435747.2:n.*499_*501del
ENST00000675595.1:c.*499_*501del	ENSP00000502563.1:n.*499_*501del
ENST00000675843.1:c.5435_5437del MANE Select	ENSP00000501606.1:p.Ala1812_Phe1813delinsVal
ENST00000278616.8:c.5435_5437del	ENSP00000278616.4:p.Ala1812_Phe1813delinsVal
ENST00000452508.6:c.5435_5437del	ENSP00000388058.2:p.Ala1812_Phe1813delinsVal
ENST00000524792.5:n.1650_1652del
ENST00000533690.5:n.839_841del
ENST00000534625.1:n.664_666del
NM_000051.3:c.5435_5437del , LRG_135t1:c.5435_5437del	NP_000042.3:p.Ala1812_Phe1813delinsVal
XM_005271561.3:c.5435_5437del	XP_005271618.2:p.Ala1812_Phe1813delinsVal
XM_005271562.3:c.5435_5437del	XP_005271619.2:p.Ala1812_Phe1813delinsVal
XM_006718843.2:c.5435_5437del	XP_006718906.1:p.Ala1812_Phe1813delinsVal
XM_006718845.1:c.1391_1393del	XP_006718908.1:p.Ala464_Phe465delinsVal
XM_011542840.1:c.5435_5437del	XP_011541142.1:p.Ala1812_Phe1813delinsVal
XM_011542841.1:c.5435_5437del	XP_011541143.1:p.Ala1812_Phe1813delinsVal
XM_011542842.1:c.5270_5272del	XP_011541144.1:p.Ala1757_Phe1758delinsVal
XM_011542843.1:c.5435_5437del	XP_011541145.1:p.Ala1812_Phe1813delinsVal
XM_011542844.1:c.4391_4393del	XP_011541146.1:p.Ala1464_Phe1465delinsVal
XM_011542845.1:c.4127_4129del	XP_011541147.1:p.Ala1376_Phe1377delinsVal
XM_011542847.1:c.506_508del	XP_011541149.1:p.Ala169_Phe170delinsVal
NM_001351834.1:c.5435_5437del	NP_001338763.1:p.Ala1812_Phe1813delinsVal
XM_005271562.5:c.5435_5437del	XP_005271619.2:p.Ala1812_Phe1813delinsVal
XM_006718843.4:c.5435_5437del	XP_006718906.1:p.Ala1812_Phe1813delinsVal
XM_006718845.2:c.1391_1393del	XP_006718908.1:p.Ala464_Phe465delinsVal
XM_011542840.3:c.5435_5437del	XP_011541142.1:p.Ala1812_Phe1813delinsVal
XM_011542842.3:c.5270_5272del	XP_011541144.1:p.Ala1757_Phe1758delinsVal
XM_011542843.2:c.5435_5437del	XP_011541145.1:p.Ala1812_Phe1813delinsVal
XM_011542844.3:c.4391_4393del	XP_011541146.1:p.Ala1464_Phe1465delinsVal
XM_011542845.2:c.4127_4129del	XP_011541147.1:p.Ala1376_Phe1377delinsVal
XM_017017789.2:c.5435_5437del	XP_016873278.1:p.Ala1812_Phe1813delinsVal
XM_017017790.2:c.5435_5437del	XP_016873279.1:p.Ala1812_Phe1813delinsVal
XM_017017791.1:c.5435_5437del	XP_016873280.1:p.Ala1812_Phe1813delinsVal
XR_002957150.1:n.6035_6037del
NM_001351834.2:c.5435_5437del	NP_001338763.1:p.Ala1812_Phe1813delinsVal
NM_000051.4:c.5435_5437del MANE Select	NP_000042.3:p.Ala1812_Phe1813delinsVal