Canonical Allele Identifier: CA350374

Gene: ATM

Linked Data

• ClinVar Variation Id: 221061
• ClinVar RCV Id: RCV000206328 ; RCV000439365 ; RCV000777916 ; RCV004547501
• dbSNP Id: rs864622731
• gnomAD v3: 11-108302843-T-C
• gnomAD v4: 11-108302843-T-C
• MyVariant Identifiers: chr11:g.108173570T>C (hg19) ; chr11:g.108302843T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302843T>C , CM000673.2:g.108302843T>C	GRCh38
NC_000011.9:g.108173570T>C , CM000673.1:g.108173570T>C	GRCh37
NC_000011.8:g.107678780T>C	NCBI36
NG_009830.1:g.85012T>C , LRG_135:g.85012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5320-10T>C	ENSP00000388058.2:n.5320-10T>C
ENST00000713593.1:c.*4791-10T>C	ENSP00000518889.1:n.*4791-10T>C
ENST00000278616.9:c.5320-10T>C	ENSP00000278616.4:n.5320-10T>C
ENST00000683174.1:n.6804-10T>C
ENST00000683524.1:n.544-10T>C
ENST00000684152.1:n.1034-10T>C
ENST00000527805.6:c.*384-10T>C	ENSP00000435747.2:n.*384-10T>C
ENST00000675595.1:c.*384-10T>C	ENSP00000502563.1:n.*384-10T>C
ENST00000675843.1:c.5320-10T>C MANE Select	ENSP00000501606.1:n.5320-10T>C
ENST00000278616.8:c.5320-10T>C	ENSP00000278616.4:n.5320-10T>C
ENST00000452508.6:c.5320-10T>C	ENSP00000388058.2:n.5320-10T>C
ENST00000524792.5:n.1535-10T>C
ENST00000533690.5:n.724-10T>C
ENST00000534625.1:n.549-10T>C
NM_000051.3:c.5320-10T>C , LRG_135t1:c.5320-10T>C	NP_000042.3:n.5320-10T>C
XM_005271561.3:c.5320-10T>C	XP_005271618.2:n.5320-10T>C
XM_005271562.3:c.5320-10T>C	XP_005271619.2:n.5320-10T>C
XM_006718843.2:c.5320-10T>C	XP_006718906.1:n.5320-10T>C
XM_006718845.1:c.1276-10T>C	XP_006718908.1:n.1276-10T>C
XM_011542840.1:c.5320-10T>C	XP_011541142.1:n.5320-10T>C
XM_011542841.1:c.5320-10T>C	XP_011541143.1:n.5320-10T>C
XM_011542842.1:c.5155-10T>C	XP_011541144.1:n.5155-10T>C
XM_011542843.1:c.5320-10T>C	XP_011541145.1:n.5320-10T>C
XM_011542844.1:c.4276-10T>C	XP_011541146.1:n.4276-10T>C
XM_011542845.1:c.4012-10T>C	XP_011541147.1:n.4012-10T>C
XM_011542846.1:c.5319-8T>C	XP_011541148.1:n.5319-8T>C
XM_011542847.1:c.391-10T>C	XP_011541149.1:n.391-10T>C
NM_001351834.1:c.5320-10T>C	NP_001338763.1:n.5320-10T>C
XM_005271562.5:c.5320-10T>C	XP_005271619.2:n.5320-10T>C
XM_006718843.4:c.5320-10T>C	XP_006718906.1:n.5320-10T>C
XM_006718845.2:c.1276-10T>C	XP_006718908.1:n.1276-10T>C
XM_011542840.3:c.5320-10T>C	XP_011541142.1:n.5320-10T>C
XM_011542842.3:c.5155-10T>C	XP_011541144.1:n.5155-10T>C
XM_011542843.2:c.5320-10T>C	XP_011541145.1:n.5320-10T>C
XM_011542844.3:c.4276-10T>C	XP_011541146.1:n.4276-10T>C
XM_011542845.2:c.4012-10T>C	XP_011541147.1:n.4012-10T>C
XM_017017789.2:c.5320-10T>C	XP_016873278.1:n.5320-10T>C
XM_017017790.2:c.5320-10T>C	XP_016873279.1:n.5320-10T>C
XM_017017791.1:c.5320-10T>C	XP_016873280.1:n.5320-10T>C
XM_017017792.2:c.*1-10T>C	XP_016873281.1:n.*1-10T>C
XR_002957150.1:n.5920-10T>C
NM_001351834.2:c.5320-10T>C	NP_001338763.1:n.5320-10T>C
NM_000051.4:c.5320-10T>C MANE Select	NP_000042.3:n.5320-10T>C