Canonical Allele Identifier: CA382541263

Gene: ATM

Linked Data

• ClinVar Variation Id: 429076
• ClinVar RCV Id: RCV000493729 ; RCV000587062
• dbSNP Id: rs1131691159
• gnomAD v4: 11-108299886-G-A
• MyVariant Identifiers: chr11:g.108170613G>A (hg19) ; chr11:g.108299886G>A (hg38)
• PubMed: PMID:16411093 ; PMID:18497957 ; PMID:19781682 ; PMID:20346647

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108299886G>A , CM000673.2:g.108299886G>A	GRCh38
NC_000011.9:g.108170613G>A , CM000673.1:g.108170613G>A	GRCh37
NC_000011.8:g.107675823G>A	NCBI36
NG_009830.1:g.82055G>A , LRG_135:g.82055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5177+1G>A	ENSP00000388058.2:n.5177+1G>A
ENST00000713593.1:c.*4648+1G>A	ENSP00000518889.1:n.*4648+1G>A
ENST00000278616.9:c.5177+1G>A	ENSP00000278616.4:n.5177+1G>A
ENST00000683174.1:n.6661+1G>A
ENST00000683524.1:n.401+1G>A
ENST00000684152.1:n.891+1G>A
ENST00000527805.6:c.*241+1G>A	ENSP00000435747.2:n.*241+1G>A
ENST00000675595.1:c.*241+1G>A	ENSP00000502563.1:n.*241+1G>A
ENST00000675843.1:c.5177+1G>A MANE Select	ENSP00000501606.1:n.5177+1G>A
ENST00000278616.8:c.5177+1G>A	ENSP00000278616.4:n.5177+1G>A
ENST00000452508.6:c.5177+1G>A	ENSP00000388058.2:n.5177+1G>A
ENST00000524792.5:n.1392+1G>A
ENST00000533690.5:n.581+1G>A
ENST00000534625.1:n.406+1G>A
NM_000051.3:c.5177+1G>A , LRG_135t1:c.5177+1G>A	NP_000042.3:n.5177+1G>A
XM_005271561.3:c.5177+1G>A	XP_005271618.2:n.5177+1G>A
XM_005271562.3:c.5177+1G>A	XP_005271619.2:n.5177+1G>A
XM_006718843.2:c.5177+1G>A	XP_006718906.1:n.5177+1G>A
XM_006718845.1:c.1133+1G>A	XP_006718908.1:n.1133+1G>A
XM_011542840.1:c.5177+1G>A	XP_011541142.1:n.5177+1G>A
XM_011542841.1:c.5177+1G>A	XP_011541143.1:n.5177+1G>A
XM_011542842.1:c.5012+1G>A	XP_011541144.1:n.5012+1G>A
XM_011542843.1:c.5177+1G>A	XP_011541145.1:n.5177+1G>A
XM_011542844.1:c.4133+1G>A	XP_011541146.1:n.4133+1G>A
XM_011542845.1:c.3869+1G>A	XP_011541147.1:n.3869+1G>A
XM_011542846.1:c.5177+1G>A	XP_011541148.1:n.5177+1G>A
XM_011542847.1:c.248+1G>A	XP_011541149.1:n.248+1G>A
NM_001351834.1:c.5177+1G>A	NP_001338763.1:n.5177+1G>A
XM_005271562.5:c.5177+1G>A	XP_005271619.2:n.5177+1G>A
XM_006718843.4:c.5177+1G>A	XP_006718906.1:n.5177+1G>A
XM_006718845.2:c.1133+1G>A	XP_006718908.1:n.1133+1G>A
XM_011542840.3:c.5177+1G>A	XP_011541142.1:n.5177+1G>A
XM_011542842.3:c.5012+1G>A	XP_011541144.1:n.5012+1G>A
XM_011542843.2:c.5177+1G>A	XP_011541145.1:n.5177+1G>A
XM_011542844.3:c.4133+1G>A	XP_011541146.1:n.4133+1G>A
XM_011542845.2:c.3869+1G>A	XP_011541147.1:n.3869+1G>A
XM_017017789.2:c.5177+1G>A	XP_016873278.1:n.5177+1G>A
XM_017017790.2:c.5177+1G>A	XP_016873279.1:n.5177+1G>A
XM_017017791.1:c.5177+1G>A	XP_016873280.1:n.5177+1G>A
XM_017017792.2:c.5177+1G>A	XP_016873281.1:n.5177+1G>A
XR_002957150.1:n.5777+1G>A
NM_001351834.2:c.5177+1G>A	NP_001338763.1:n.5177+1G>A
NM_000051.4:c.5177+1G>A MANE Select	NP_000042.3:n.5177+1G>A