Canonical Allele Identifier: CA382542858

Gene: ATM

Linked Data

• ClinVar Variation Id: 479006
• ClinVar RCV Id: RCV000565533 ; RCV000801687 ; RCV002060383 ; RCV003155950
• dbSNP Id: rs1555105842
• gnomAD v4: 11-108301791-T-C
• COSMIC: COSM4745887
• MyVariant Identifiers: chr11:g.108172518T>C (hg19) ; chr11:g.108301791T>C (hg38)
• PubMed: PMID:9463314 ; PMID:17124347 ; PMID:23454770

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108301791T>C , CM000673.2:g.108301791T>C	GRCh38
NC_000011.9:g.108172518T>C , CM000673.1:g.108172518T>C	GRCh37
NC_000011.8:g.107677728T>C	NCBI36
NG_009830.1:g.83960T>C , LRG_135:g.83960T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5319+2T>C	ENSP00000388058.2:n.5319+2T>C
ENST00000713593.1:c.*4790+2T>C	ENSP00000518889.1:n.*4790+2T>C
ENST00000278616.9:c.5319+2T>C	ENSP00000278616.4:n.5319+2T>C
ENST00000683174.1:n.6803+2T>C
ENST00000683524.1:n.543+2T>C
ENST00000684152.1:n.1033+2T>C
ENST00000527805.6:c.*383+2T>C	ENSP00000435747.2:n.*383+2T>C
ENST00000675595.1:c.*383+2T>C	ENSP00000502563.1:n.*383+2T>C
ENST00000675843.1:c.5319+2T>C MANE Select	ENSP00000501606.1:n.5319+2T>C
ENST00000278616.8:c.5319+2T>C	ENSP00000278616.4:n.5319+2T>C
ENST00000452508.6:c.5319+2T>C	ENSP00000388058.2:n.5319+2T>C
ENST00000524792.5:n.1534+2T>C
ENST00000533690.5:n.723+2T>C
ENST00000534625.1:n.548+2T>C
NM_000051.3:c.5319+2T>C , LRG_135t1:c.5319+2T>C	NP_000042.3:n.5319+2T>C
XM_005271561.3:c.5319+2T>C	XP_005271618.2:n.5319+2T>C
XM_005271562.3:c.5319+2T>C	XP_005271619.2:n.5319+2T>C
XM_006718843.2:c.5319+2T>C	XP_006718906.1:n.5319+2T>C
XM_006718845.1:c.1275+2T>C	XP_006718908.1:n.1275+2T>C
XM_011542840.1:c.5319+2T>C	XP_011541142.1:n.5319+2T>C
XM_011542841.1:c.5319+2T>C	XP_011541143.1:n.5319+2T>C
XM_011542842.1:c.5154+2T>C	XP_011541144.1:n.5154+2T>C
XM_011542843.1:c.5319+2T>C	XP_011541145.1:n.5319+2T>C
XM_011542844.1:c.4275+2T>C	XP_011541146.1:n.4275+2T>C
XM_011542845.1:c.4011+2T>C	XP_011541147.1:n.4011+2T>C
XM_011542846.1:c.5318+3T>C	XP_011541148.1:n.5318+3T>C
XM_011542847.1:c.390+2T>C	XP_011541149.1:n.390+2T>C
NM_001351834.1:c.5319+2T>C	NP_001338763.1:n.5319+2T>C
XM_005271562.5:c.5319+2T>C	XP_005271619.2:n.5319+2T>C
XM_006718843.4:c.5319+2T>C	XP_006718906.1:n.5319+2T>C
XM_006718845.2:c.1275+2T>C	XP_006718908.1:n.1275+2T>C
XM_011542840.3:c.5319+2T>C	XP_011541142.1:n.5319+2T>C
XM_011542842.3:c.5154+2T>C	XP_011541144.1:n.5154+2T>C
XM_011542843.2:c.5319+2T>C	XP_011541145.1:n.5319+2T>C
XM_011542844.3:c.4275+2T>C	XP_011541146.1:n.4275+2T>C
XM_011542845.2:c.4011+2T>C	XP_011541147.1:n.4011+2T>C
XM_017017789.2:c.5319+2T>C	XP_016873278.1:n.5319+2T>C
XM_017017790.2:c.5319+2T>C	XP_016873279.1:n.5319+2T>C
XM_017017791.1:c.5319+2T>C	XP_016873280.1:n.5319+2T>C
XM_017017792.2:c.5321T>C	XP_016873281.1:p.Val1774Ala
XR_002957150.1:n.5919+2T>C
NM_001351834.2:c.5319+2T>C	NP_001338763.1:n.5319+2T>C
NM_000051.4:c.5319+2T>C MANE Select	NP_000042.3:n.5319+2T>C