Canonical Allele Identifier: CA1998799990

Gene: ATM

Linked Data

• ClinVar Variation Id: 1025792
• ClinVar RCV Id: RCV001326153
• dbSNP Id: rs2083503966

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302957_108302962del , CM000673.2:g.108302957_108302962del	GRCh38
NC_000011.9:g.108173684_108173689del , CM000673.1:g.108173684_108173689del	GRCh37
NC_000011.8:g.107678894_107678899del	NCBI36
NG_009830.1:g.85126_85131del , LRG_135:g.85126_85131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5424_5429del	ENSP00000388058.2:p.Leu1809_Thr1810del
ENST00000713593.1:c.*4895_*4900del	ENSP00000518889.1:n.*4895_*4900del
ENST00000278616.9:c.5424_5429del	ENSP00000278616.4:p.Leu1809_Thr1810del
ENST00000683174.1:n.6908_6913del
ENST00000683524.1:n.648_653del
ENST00000684152.1:n.1138_1143del
ENST00000527805.6:c.*488_*493del	ENSP00000435747.2:n.*488_*493del
ENST00000675595.1:c.*488_*493del	ENSP00000502563.1:n.*488_*493del
ENST00000675843.1:c.5424_5429del MANE Select	ENSP00000501606.1:p.Leu1809_Thr1810del
ENST00000278616.8:c.5424_5429del	ENSP00000278616.4:p.Leu1809_Thr1810del
ENST00000452508.6:c.5424_5429del	ENSP00000388058.2:p.Leu1809_Thr1810del
ENST00000524792.5:n.1639_1644del
ENST00000533690.5:n.828_833del
ENST00000534625.1:n.653_658del
NM_000051.3:c.5424_5429del , LRG_135t1:c.5424_5429del	NP_000042.3:p.Leu1809_Thr1810del
XM_005271561.3:c.5424_5429del	XP_005271618.2:p.Leu1809_Thr1810del
XM_005271562.3:c.5424_5429del	XP_005271619.2:p.Leu1809_Thr1810del
XM_006718843.2:c.5424_5429del	XP_006718906.1:p.Leu1809_Thr1810del
XM_006718845.1:c.1380_1385del	XP_006718908.1:p.Leu461_Thr462del
XM_011542840.1:c.5424_5429del	XP_011541142.1:p.Leu1809_Thr1810del
XM_011542841.1:c.5424_5429del	XP_011541143.1:p.Leu1809_Thr1810del
XM_011542842.1:c.5259_5264del	XP_011541144.1:p.Leu1754_Thr1755del
XM_011542843.1:c.5424_5429del	XP_011541145.1:p.Leu1809_Thr1810del
XM_011542844.1:c.4380_4385del	XP_011541146.1:p.Leu1461_Thr1462del
XM_011542845.1:c.4116_4121del	XP_011541147.1:p.Leu1373_Thr1374del
XM_011542846.1:c.*82_*87del	XP_011541148.1:n.*82_*87del
XM_011542847.1:c.495_500del	XP_011541149.1:p.Leu166_Thr167del
NM_001351834.1:c.5424_5429del	NP_001338763.1:p.Leu1809_Thr1810del
XM_005271562.5:c.5424_5429del	XP_005271619.2:p.Leu1809_Thr1810del
XM_006718843.4:c.5424_5429del	XP_006718906.1:p.Leu1809_Thr1810del
XM_006718845.2:c.1380_1385del	XP_006718908.1:p.Leu461_Thr462del
XM_011542840.3:c.5424_5429del	XP_011541142.1:p.Leu1809_Thr1810del
XM_011542842.3:c.5259_5264del	XP_011541144.1:p.Leu1754_Thr1755del
XM_011542843.2:c.5424_5429del	XP_011541145.1:p.Leu1809_Thr1810del
XM_011542844.3:c.4380_4385del	XP_011541146.1:p.Leu1461_Thr1462del
XM_011542845.2:c.4116_4121del	XP_011541147.1:p.Leu1373_Thr1374del
XM_017017789.2:c.5424_5429del	XP_016873278.1:p.Leu1809_Thr1810del
XM_017017790.2:c.5424_5429del	XP_016873279.1:p.Leu1809_Thr1810del
XM_017017791.1:c.5424_5429del	XP_016873280.1:p.Leu1809_Thr1810del
XR_002957150.1:n.6024_6029del
NM_001351834.2:c.5424_5429del	NP_001338763.1:p.Leu1809_Thr1810del
NM_000051.4:c.5424_5429del MANE Select	NP_000042.3:p.Leu1809_Thr1810del