Canonical Allele Identifier: CA195638

Gene: ATM

Linked Data

• ClinVar Variation Id: 186714
• ClinVar RCV Id: RCV000166356 ; RCV000710663 ; RCV001781514 ; RCV004019984
• dbSNP Id: rs786203166
• gnomAD v4: 11-108250712-CA-C
• MyVariant Identifiers: chr11:g.108121441del (hg19) ; chr11:g.108250714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250714del , CM000673.2:g.108250714del	GRCh38
NC_000011.9:g.108121441del , CM000673.1:g.108121441del	GRCh37
NC_000011.8:g.107626651del	NCBI36
NG_009830.1:g.32883del , LRG_135:g.32883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1249del	ENSP00000388058.2:p.Thr417ProfsTer3
ENST00000713593.1:c.*720del	ENSP00000518889.1:n.*720del
ENST00000278616.9:c.1249del	ENSP00000278616.4:p.Thr417ProfsTer3
ENST00000682516.1:n.1383del
ENST00000682956.1:n.1383del
ENST00000683174.1:n.1399del
ENST00000683605.1:n.744del
ENST00000684037.1:c.*184del	ENSP00000508245.1:n.*184del
ENST00000684061.1:n.1383del
ENST00000684179.1:n.1218del
ENST00000527805.6:c.1249del	ENSP00000435747.2:p.Thr417ProfsTer3
ENST00000675595.1:c.1084del	ENSP00000502563.1:p.Thr362ProfsTer3
ENST00000675843.1:c.1249del MANE Select	ENSP00000501606.1:p.Thr417ProfsTer3
ENST00000278616.8:c.1249del	ENSP00000278616.4:p.Thr417ProfsTer3
ENST00000452508.6:c.1249del	ENSP00000388058.2:p.Thr417ProfsTer3
ENST00000527805.5:c.1249del	ENSP00000435747.1:p.Thr417ProfsTer3
NM_000051.3:c.1249del , LRG_135t1:c.1249del	NP_000042.3:p.Thr417ProfsTer3
XM_005271561.3:c.1249del	XP_005271618.2:p.Thr417ProfsTer3
XM_005271562.3:c.1249del	XP_005271619.2:p.Thr417ProfsTer3
XM_006718843.2:c.1249del	XP_006718906.1:p.Thr417ProfsTer3
XM_011542840.1:c.1249del	XP_011541142.1:p.Thr417ProfsTer3
XM_011542841.1:c.1249del	XP_011541143.1:p.Thr417ProfsTer3
XM_011542842.1:c.1084del	XP_011541144.1:p.Thr362ProfsTer3
XM_011542843.1:c.1249del	XP_011541145.1:p.Thr417ProfsTer3
XM_011542844.1:c.205del	XP_011541146.1:p.Thr69ProfsTer3
XM_011542845.1:c.-60del	XP_011541147.1:n.-60del
XM_011542846.1:c.1249del	XP_011541148.1:p.Thr417ProfsTer3
NM_001351834.1:c.1249del	NP_001338763.1:p.Thr417ProfsTer3
XM_005271562.5:c.1249del	XP_005271619.2:p.Thr417ProfsTer3
XM_006718843.4:c.1249del	XP_006718906.1:p.Thr417ProfsTer3
XM_011542840.3:c.1249del	XP_011541142.1:p.Thr417ProfsTer3
XM_011542842.3:c.1084del	XP_011541144.1:p.Thr362ProfsTer3
XM_011542843.2:c.1249del	XP_011541145.1:p.Thr417ProfsTer3
XM_011542844.3:c.205del	XP_011541146.1:p.Thr69ProfsTer3
XM_011542845.2:c.-60del	XP_011541147.1:n.-60del
XM_017017789.2:c.1249del	XP_016873278.1:p.Thr417ProfsTer3
XM_017017790.2:c.1249del	XP_016873279.1:p.Thr417ProfsTer3
XM_017017791.1:c.1249del	XP_016873280.1:p.Thr417ProfsTer3
XM_017017792.2:c.1249del	XP_016873281.1:p.Thr417ProfsTer3
XR_002957150.1:n.1982del
NM_001351834.2:c.1249del	NP_001338763.1:p.Thr417ProfsTer3
NM_000051.4:c.1249del MANE Select	NP_000042.3:p.Thr417ProfsTer3