Canonical Allele Identifier: CA2499220656

Gene: ATM

Linked Data

• ClinVar Variation Id: 1075452
• ClinVar RCV Id: RCV003321836 ; RCV003469751
• dbSNP Id: rs2135927504
• gnomAD v4: 11-108302876-CAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302880_108302883del , CM000673.2:g.108302880_108302883del	GRCh38
NC_000011.9:g.108173607_108173610del , CM000673.1:g.108173607_108173610del	GRCh37
NC_000011.8:g.107678817_107678820del	NCBI36
NG_009830.1:g.85049_85052del , LRG_135:g.85049_85052del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5347_5350del	ENSP00000388058.2:p.Glu1783ThrfsTer9
ENST00000713593.1:c.*4818_*4821del	ENSP00000518889.1:n.*4818_*4821del
ENST00000278616.9:c.5347_5350del	ENSP00000278616.4:p.Glu1783ThrfsTer9
ENST00000683174.1:n.6831_6834del
ENST00000683524.1:n.571_574del
ENST00000684152.1:n.1061_1064del
ENST00000527805.6:c.*411_*414del	ENSP00000435747.2:n.*411_*414del
ENST00000675595.1:c.*411_*414del	ENSP00000502563.1:n.*411_*414del
ENST00000675843.1:c.5347_5350del MANE Select	ENSP00000501606.1:p.Glu1783ThrfsTer9
ENST00000278616.8:c.5347_5350del	ENSP00000278616.4:p.Glu1783ThrfsTer9
ENST00000452508.6:c.5347_5350del	ENSP00000388058.2:p.Glu1783ThrfsTer9
ENST00000524792.5:n.1562_1565del
ENST00000533690.5:n.751_754del
ENST00000534625.1:n.576_579del
NM_000051.3:c.5347_5350del , LRG_135t1:c.5347_5350del	NP_000042.3:p.Glu1783ThrfsTer9
XM_005271561.3:c.5347_5350del	XP_005271618.2:p.Glu1783ThrfsTer9
XM_005271562.3:c.5347_5350del	XP_005271619.2:p.Glu1783ThrfsTer9
XM_006718843.2:c.5347_5350del	XP_006718906.1:p.Glu1783ThrfsTer9
XM_006718845.1:c.1303_1306del	XP_006718908.1:p.Glu435ThrfsTer9
XM_011542840.1:c.5347_5350del	XP_011541142.1:p.Glu1783ThrfsTer9
XM_011542841.1:c.5347_5350del	XP_011541143.1:p.Glu1783ThrfsTer9
XM_011542842.1:c.5182_5185del	XP_011541144.1:p.Glu1728ThrfsTer9
XM_011542843.1:c.5347_5350del	XP_011541145.1:p.Glu1783ThrfsTer9
XM_011542844.1:c.4303_4306del	XP_011541146.1:p.Glu1435ThrfsTer9
XM_011542845.1:c.4039_4042del	XP_011541147.1:p.Glu1347ThrfsTer9
XM_011542846.1:c.*5_*8del	XP_011541148.1:n.*5_*8del
XM_011542847.1:c.418_421del	XP_011541149.1:p.Glu140ThrfsTer9
NM_001351834.1:c.5347_5350del	NP_001338763.1:p.Glu1783ThrfsTer9
XM_005271562.5:c.5347_5350del	XP_005271619.2:p.Glu1783ThrfsTer9
XM_006718843.4:c.5347_5350del	XP_006718906.1:p.Glu1783ThrfsTer9
XM_006718845.2:c.1303_1306del	XP_006718908.1:p.Glu435ThrfsTer9
XM_011542840.3:c.5347_5350del	XP_011541142.1:p.Glu1783ThrfsTer9
XM_011542842.3:c.5182_5185del	XP_011541144.1:p.Glu1728ThrfsTer9
XM_011542843.2:c.5347_5350del	XP_011541145.1:p.Glu1783ThrfsTer9
XM_011542844.3:c.4303_4306del	XP_011541146.1:p.Glu1435ThrfsTer9
XM_011542845.2:c.4039_4042del	XP_011541147.1:p.Glu1347ThrfsTer9
XM_017017789.2:c.5347_5350del	XP_016873278.1:p.Glu1783ThrfsTer9
XM_017017790.2:c.5347_5350del	XP_016873279.1:p.Glu1783ThrfsTer9
XM_017017791.1:c.5347_5350del	XP_016873280.1:p.Glu1783ThrfsTer9
XM_017017792.2:c.*28_*31del	XP_016873281.1:n.*28_*31del
XR_002957150.1:n.5947_5950del
NM_001351834.2:c.5347_5350del	NP_001338763.1:p.Glu1783ThrfsTer9
NM_000051.4:c.5347_5350del MANE Select	NP_000042.3:p.Glu1783ThrfsTer9