Canonical Allele Identifier: CA273990

Gene: ATM

Linked Data

• ClinVar Variation Id: 127340
• ClinVar RCV Id: RCV000115144 ; RCV000169147 ; RCV000211964 ; RCV000709705 ; RCV001263302 ; RCV002477274 ; RCV002508921 ; RCV001357511 ; RCV004549540 ; RCV002051809 ; RCV003492453
• dbSNP Id: rs587779817
• ExAC: 11:108121752 CAG / C
• gnomAD v2: 11-108121752-CAG-C
• gnomAD v3: 11-108251025-CAG-C
• gnomAD v4: 11-108251025-CAG-C
• COSMIC: COSM21675 ; COSM22496 ; COSM4745905
• MyVariant Identifiers: chr11:g.108121756_108121757del (hg19) ; chr11:g.108121753_108121754del (hg19) ; chr11:g.108251029_108251030del (hg38) ; chr11:g.108251027_108251028del (hg38) ; chr11:g.108251026_108251027del (hg38)
• PubMed: PMID:8789452 ; PMID:9887333 ; PMID:10330348 ; PMID:10817650 ; PMID:16266405 ; PMID:21965147 ; PMID:22213089 ; PMID:25186627 ; PMID:26182300 ; PMID:26506520 ; PMID:26681312 ; PMID:27083775

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251029_108251030del , CM000673.2:g.108251029_108251030del	GRCh38
NC_000011.9:g.108121756_108121757del , CM000673.1:g.108121756_108121757del	GRCh37
NC_000011.8:g.107626966_107626967del	NCBI36
NG_009830.1:g.33198_33199del , LRG_135:g.33198_33199del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1564_1565del	ENSP00000388058.2:p.Glu522IlefsTer?
ENST00000713593.1:c.*1035_*1036del	ENSP00000518889.1:n.*1035_*1036del
ENST00000278616.9:c.1564_1565del	ENSP00000278616.4:p.Glu522IlefsTer?
ENST00000682516.1:n.1698_1699del
ENST00000682956.1:n.1698_1699del
ENST00000683174.1:n.1714_1715del
ENST00000683605.1:n.1059_1060del
ENST00000684037.1:c.*499_*500del	ENSP00000508245.1:n.*499_*500del
ENST00000684061.1:n.1698_1699del
ENST00000684179.1:n.1533_1534del
ENST00000527805.6:c.1564_1565del	ENSP00000435747.2:p.Glu522IlefsTer?
ENST00000675595.1:c.1399_1400del	ENSP00000502563.1:p.Glu467IlefsTer?
ENST00000675843.1:c.1564_1565del MANE Select	ENSP00000501606.1:p.Glu522IlefsTer?
ENST00000278616.8:c.1564_1565del	ENSP00000278616.4:p.Glu522IlefsTer?
ENST00000452508.6:c.1564_1565del	ENSP00000388058.2:p.Glu522IlefsTer?
ENST00000527805.5:c.1564_1565del	ENSP00000435747.1:p.Glu522IlefsTer?
NM_000051.3:c.1564_1565del , LRG_135t1:c.1564_1565del	NP_000042.3:p.Glu522IlefsTer?
XM_005271561.3:c.1564_1565del	XP_005271618.2:p.Glu522IlefsTer?
XM_005271562.3:c.1564_1565del	XP_005271619.2:p.Glu522IlefsTer?
XM_006718843.2:c.1564_1565del	XP_006718906.1:p.Glu522IlefsTer?
XM_011542840.1:c.1564_1565del	XP_011541142.1:p.Glu522IlefsTer?
XM_011542841.1:c.1564_1565del	XP_011541143.1:p.Glu522IlefsTer?
XM_011542842.1:c.1399_1400del	XP_011541144.1:p.Glu467IlefsTer?
XM_011542843.1:c.1564_1565del	XP_011541145.1:p.Glu522IlefsTer?
XM_011542844.1:c.520_521del	XP_011541146.1:p.Glu174IlefsTer?
XM_011542845.1:c.256_257del	XP_011541147.1:p.Glu86IlefsTer?
XM_011542846.1:c.1564_1565del	XP_011541148.1:p.Glu522IlefsTer?
NM_001351834.1:c.1564_1565del	NP_001338763.1:p.Glu522IlefsTer?
XM_005271562.5:c.1564_1565del	XP_005271619.2:p.Glu522IlefsTer?
XM_006718843.4:c.1564_1565del	XP_006718906.1:p.Glu522IlefsTer?
XM_011542840.3:c.1564_1565del	XP_011541142.1:p.Glu522IlefsTer?
XM_011542842.3:c.1399_1400del	XP_011541144.1:p.Glu467IlefsTer?
XM_011542843.2:c.1564_1565del	XP_011541145.1:p.Glu522IlefsTer?
XM_011542844.3:c.520_521del	XP_011541146.1:p.Glu174IlefsTer?
XM_011542845.2:c.256_257del	XP_011541147.1:p.Glu86IlefsTer?
XM_017017789.2:c.1564_1565del	XP_016873278.1:p.Glu522IlefsTer?
XM_017017790.2:c.1564_1565del	XP_016873279.1:p.Glu522IlefsTer?
XM_017017791.1:c.1564_1565del	XP_016873280.1:p.Glu522IlefsTer?
XM_017017792.2:c.1564_1565del	XP_016873281.1:p.Glu522IlefsTer?
XR_002957150.1:n.2297_2298del
NM_001351834.2:c.1564_1565del	NP_001338763.1:p.Glu522IlefsTer?
NM_000051.4:c.1564_1565del MANE Select	NP_000042.3:p.Glu522IlefsTer?