Canonical Allele Identifier: CA658823320

Gene: ATM

Linked Data

• ClinVar Variation Id: 545827
• ClinVar RCV Id: RCV000657392 ; RCV000687447 ; RCV004026003
• dbSNP Id: rs1555083267
• MyVariant Identifiers: chr11:g.108139225del (hg19) ; chr11:g.108268498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268498del , CM000673.2:g.108268498del	GRCh38
NC_000011.9:g.108139225del , CM000673.1:g.108139225del	GRCh37
NC_000011.8:g.107644435del	NCBI36
NG_009830.1:g.50667del , LRG_135:g.50667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2727del	ENSP00000388058.2:p.Thr910LeufsTer19
ENST00000713593.1:c.*2198del	ENSP00000518889.1:n.*2198del
ENST00000278616.9:c.2727del	ENSP00000278616.4:p.Thr910LeufsTer19
ENST00000682516.1:n.2772+1156del
ENST00000683174.1:n.2877del
ENST00000684037.1:c.*1573+1156del	ENSP00000508245.1:n.*1573+1156del
ENST00000527805.6:c.2727del	ENSP00000435747.2:p.Thr910LeufsTer19
ENST00000675595.1:c.2562del	ENSP00000502563.1:p.Thr855LeufsTer19
ENST00000675843.1:c.2727del MANE Select	ENSP00000501606.1:p.Thr910LeufsTer19
ENST00000278616.8:c.2727del	ENSP00000278616.4:p.Thr910LeufsTer19
ENST00000419286.2:n.89del
ENST00000452508.6:c.2727del	ENSP00000388058.2:p.Thr910LeufsTer19
ENST00000527805.5:c.2727del	ENSP00000435747.1:p.Thr910LeufsTer19
NM_000051.3:c.2727del , LRG_135t1:c.2727del	NP_000042.3:p.Thr910LeufsTer19
XM_005271561.3:c.2727del	XP_005271618.2:p.Thr910LeufsTer19
XM_005271562.3:c.2727del	XP_005271619.2:p.Thr910LeufsTer19
XM_006718843.2:c.2727del	XP_006718906.1:p.Thr910LeufsTer19
XM_011542840.1:c.2727del	XP_011541142.1:p.Thr910LeufsTer19
XM_011542841.1:c.2727del	XP_011541143.1:p.Thr910LeufsTer19
XM_011542842.1:c.2562del	XP_011541144.1:p.Thr855LeufsTer19
XM_011542843.1:c.2727del	XP_011541145.1:p.Thr910LeufsTer19
XM_011542844.1:c.1683del	XP_011541146.1:p.Thr562LeufsTer19
XM_011542845.1:c.1419del	XP_011541147.1:p.Thr474LeufsTer19
XM_011542846.1:c.2727del	XP_011541148.1:p.Thr910LeufsTer19
NM_001351834.1:c.2727del	NP_001338763.1:p.Thr910LeufsTer19
XM_005271562.5:c.2727del	XP_005271619.2:p.Thr910LeufsTer19
XM_006718843.4:c.2727del	XP_006718906.1:p.Thr910LeufsTer19
XM_011542840.3:c.2727del	XP_011541142.1:p.Thr910LeufsTer19
XM_011542842.3:c.2562del	XP_011541144.1:p.Thr855LeufsTer19
XM_011542843.2:c.2727del	XP_011541145.1:p.Thr910LeufsTer19
XM_011542844.3:c.1683del	XP_011541146.1:p.Thr562LeufsTer19
XM_011542845.2:c.1419del	XP_011541147.1:p.Thr474LeufsTer19
XM_017017789.2:c.2727del	XP_016873278.1:p.Thr910LeufsTer19
XM_017017790.2:c.2727del	XP_016873279.1:p.Thr910LeufsTer19
XM_017017791.1:c.2727del	XP_016873280.1:p.Thr910LeufsTer19
XM_017017792.2:c.2727del	XP_016873281.1:p.Thr910LeufsTer19
XR_002957150.1:n.3460del
NM_001351834.2:c.2727del	NP_001338763.1:p.Thr910LeufsTer19
NM_000051.4:c.2727del MANE Select	NP_000042.3:p.Thr910LeufsTer19