Canonical Allele Identifier: CA10579048

Gene: ATM

Linked Data

• ClinVar Variation Id: 230468
• ClinVar RCV Id: RCV000222588 ; RCV000627988
• dbSNP Id: rs876658583
• gnomAD v4: 11-108257524-AT-A
• MyVariant Identifiers: chr11:g.108128252del (hg19) ; chr11:g.108257525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108257525del , CM000673.2:g.108257525del	GRCh38
NC_000011.9:g.108128252del , CM000673.1:g.108128252del	GRCh37
NC_000011.8:g.107633462del	NCBI36
NG_009830.1:g.39694del , LRG_135:g.39694del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2295del	ENSP00000388058.2:p.Asn765LysfsTer12
ENST00000713593.1:c.*1766del	ENSP00000518889.1:n.*1766del
ENST00000278616.9:c.2295del	ENSP00000278616.4:p.Asn765LysfsTer12
ENST00000682516.1:n.2429del
ENST00000683174.1:n.2445del
ENST00000683605.1:n.1790del
ENST00000684037.1:c.*1230del	ENSP00000508245.1:n.*1230del
ENST00000527805.6:c.2295del	ENSP00000435747.2:p.Asn765LysfsTer12
ENST00000675595.1:c.2130del	ENSP00000502563.1:p.Asn710LysfsTer12
ENST00000675843.1:c.2295del MANE Select	ENSP00000501606.1:p.Asn765LysfsTer12
ENST00000278616.8:c.2295del	ENSP00000278616.4:p.Asn765LysfsTer12
ENST00000452508.6:c.2295del	ENSP00000388058.2:p.Asn765LysfsTer12
ENST00000527805.5:c.2295del	ENSP00000435747.1:p.Asn765LysfsTer12
NM_000051.3:c.2295del , LRG_135t1:c.2295del	NP_000042.3:p.Asn765LysfsTer12
XM_005271561.3:c.2295del	XP_005271618.2:p.Asn765LysfsTer12
XM_005271562.3:c.2295del	XP_005271619.2:p.Asn765LysfsTer12
XM_006718843.2:c.2295del	XP_006718906.1:p.Asn765LysfsTer12
XM_011542840.1:c.2295del	XP_011541142.1:p.Asn765LysfsTer12
XM_011542841.1:c.2295del	XP_011541143.1:p.Asn765LysfsTer12
XM_011542842.1:c.2130del	XP_011541144.1:p.Asn710LysfsTer12
XM_011542843.1:c.2295del	XP_011541145.1:p.Asn765LysfsTer12
XM_011542844.1:c.1251del	XP_011541146.1:p.Asn417LysfsTer12
XM_011542845.1:c.987del	XP_011541147.1:p.Asn329LysfsTer12
XM_011542846.1:c.2295del	XP_011541148.1:p.Asn765LysfsTer12
NM_001351834.1:c.2295del	NP_001338763.1:p.Asn765LysfsTer12
XM_005271562.5:c.2295del	XP_005271619.2:p.Asn765LysfsTer12
XM_006718843.4:c.2295del	XP_006718906.1:p.Asn765LysfsTer12
XM_011542840.3:c.2295del	XP_011541142.1:p.Asn765LysfsTer12
XM_011542842.3:c.2130del	XP_011541144.1:p.Asn710LysfsTer12
XM_011542843.2:c.2295del	XP_011541145.1:p.Asn765LysfsTer12
XM_011542844.3:c.1251del	XP_011541146.1:p.Asn417LysfsTer12
XM_011542845.2:c.987del	XP_011541147.1:p.Asn329LysfsTer12
XM_017017789.2:c.2295del	XP_016873278.1:p.Asn765LysfsTer12
XM_017017790.2:c.2295del	XP_016873279.1:p.Asn765LysfsTer12
XM_017017791.1:c.2295del	XP_016873280.1:p.Asn765LysfsTer12
XM_017017792.2:c.2295del	XP_016873281.1:p.Asn765LysfsTer12
XR_002957150.1:n.3028del
NM_001351834.2:c.2295del	NP_001338763.1:p.Asn765LysfsTer12
NM_000051.4:c.2295del MANE Select	NP_000042.3:p.Asn765LysfsTer12