Canonical Allele Identifier: CA891842909

Gene: ATM

Linked Data

• ClinVar Variation Id: 584778
• ClinVar RCV Id: RCV000709167 ; RCV004026762
• dbSNP Id: rs1565385883
• MyVariant Identifiers: chr11:g.108122701_108122705del (hg19) ; chr11:g.108251974_108251978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251974_108251978del , CM000673.2:g.108251974_108251978del	GRCh38
NC_000011.9:g.108122701_108122705del , CM000673.1:g.108122701_108122705del	GRCh37
NC_000011.8:g.107627911_107627915del	NCBI36
NG_009830.1:g.34143_34147del , LRG_135:g.34143_34147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1745_1749del	ENSP00000388058.2:p.Phe582SerfsTer5
ENST00000713593.1:c.*1216_*1220del	ENSP00000518889.1:n.*1216_*1220del
ENST00000278616.9:c.1745_1749del	ENSP00000278616.4:p.Phe582SerfsTer5
ENST00000682516.1:n.1879_1883del
ENST00000683174.1:n.1895_1899del
ENST00000683605.1:n.1240_1244del
ENST00000684037.1:c.*680_*684del	ENSP00000508245.1:n.*680_*684del
ENST00000684061.1:n.1879_1883del
ENST00000527805.6:c.1745_1749del	ENSP00000435747.2:p.Phe582SerfsTer5
ENST00000675595.1:c.1580_1584del	ENSP00000502563.1:p.Phe527SerfsTer5
ENST00000675843.1:c.1745_1749del MANE Select	ENSP00000501606.1:p.Phe582SerfsTer5
ENST00000278616.8:c.1745_1749del	ENSP00000278616.4:p.Phe582SerfsTer5
ENST00000452508.6:c.1745_1749del	ENSP00000388058.2:p.Phe582SerfsTer5
ENST00000527805.5:c.1745_1749del	ENSP00000435747.1:p.Phe582SerfsTer5
NM_000051.3:c.1745_1749del , LRG_135t1:c.1745_1749del	NP_000042.3:p.Phe582SerfsTer5
XM_005271561.3:c.1745_1749del	XP_005271618.2:p.Phe582SerfsTer5
XM_005271562.3:c.1745_1749del	XP_005271619.2:p.Phe582SerfsTer5
XM_006718843.2:c.1745_1749del	XP_006718906.1:p.Phe582SerfsTer5
XM_011542840.1:c.1745_1749del	XP_011541142.1:p.Phe582SerfsTer5
XM_011542841.1:c.1745_1749del	XP_011541143.1:p.Phe582SerfsTer5
XM_011542842.1:c.1580_1584del	XP_011541144.1:p.Phe527SerfsTer5
XM_011542843.1:c.1745_1749del	XP_011541145.1:p.Phe582SerfsTer5
XM_011542844.1:c.701_705del	XP_011541146.1:p.Phe234SerfsTer5
XM_011542845.1:c.437_441del	XP_011541147.1:p.Phe146SerfsTer5
XM_011542846.1:c.1745_1749del	XP_011541148.1:p.Phe582SerfsTer5
NM_001351834.1:c.1745_1749del	NP_001338763.1:p.Phe582SerfsTer5
XM_005271562.5:c.1745_1749del	XP_005271619.2:p.Phe582SerfsTer5
XM_006718843.4:c.1745_1749del	XP_006718906.1:p.Phe582SerfsTer5
XM_011542840.3:c.1745_1749del	XP_011541142.1:p.Phe582SerfsTer5
XM_011542842.3:c.1580_1584del	XP_011541144.1:p.Phe527SerfsTer5
XM_011542843.2:c.1745_1749del	XP_011541145.1:p.Phe582SerfsTer5
XM_011542844.3:c.701_705del	XP_011541146.1:p.Phe234SerfsTer5
XM_011542845.2:c.437_441del	XP_011541147.1:p.Phe146SerfsTer5
XM_017017789.2:c.1745_1749del	XP_016873278.1:p.Phe582SerfsTer5
XM_017017790.2:c.1745_1749del	XP_016873279.1:p.Phe582SerfsTer5
XM_017017791.1:c.1745_1749del	XP_016873280.1:p.Phe582SerfsTer5
XM_017017792.2:c.1745_1749del	XP_016873281.1:p.Phe582SerfsTer5
XR_002957150.1:n.2478_2482del
NM_001351834.2:c.1745_1749del	NP_001338763.1:p.Phe582SerfsTer5
NM_000051.4:c.1745_1749del MANE Select	NP_000042.3:p.Phe582SerfsTer5