Canonical Allele Identifier: CA10579231

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 230111
• ClinVar RCV Id: RCV000219311
• dbSNP Id: rs876658394
• MyVariant Identifiers: chr11:g.108196189del (hg19) ; chr11:g.108325462del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325462del , CM000673.2:g.108325462del	GRCh38
NC_000011.9:g.108196189del , CM000673.1:g.108196189del	GRCh37
NC_000011.8:g.107701399del	NCBI36
NG_009830.1:g.107631del , LRG_135:g.107631del
NG_054724.1:g.149371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6725del (ATM)	ENSP00000388058.2:p.Ser2242TyrfsTer15
ENST00000713593.1:c.*6196del (ATM)	ENSP00000518889.1:n.*6196del
ENST00000278616.9:c.6725del (ATM)	ENSP00000278616.4:p.Ser2242TyrfsTer15
ENST00000525056.2:n.1144del (ATM)
ENST00000682286.1:n.1482del (ATM)
ENST00000682302.1:n.1143del (ATM)
ENST00000683174.1:n.8209del (ATM)
ENST00000683524.1:n.1949del (ATM)
ENST00000684152.1:n.2439del (ATM)
ENST00000527805.6:c.*1789del (ATM)	ENSP00000435747.2:n.*1789del
ENST00000675595.1:c.*1860del (ATM)	ENSP00000502563.1:n.*1860del
ENST00000675843.1:c.6725del (ATM) MANE Select	ENSP00000501606.1:p.Ser2242TyrfsTer15
ENST00000278616.8:c.6725del (ATM)	ENSP00000278616.4:p.Ser2242TyrfsTer15
ENST00000452508.6:c.6725del (ATM)	ENSP00000388058.2:p.Ser2242TyrfsTer15
ENST00000524792.5:n.2940del (ATM)
ENST00000525729.5:c.641-16391del (C11orf65)	ENSP00000433395.1:n.641-16391del
ENST00000533690.5:n.2129del (ATM)
NM_000051.3:c.6725del , LRG_135t1:c.6725del (ATM)	NP_000042.3:p.Ser2242TyrfsTer15
XM_005271561.3:c.6725del (ATM)	XP_005271618.2:p.Ser2242TyrfsTer15
XM_005271562.3:c.6725del (ATM)	XP_005271619.2:p.Ser2242TyrfsTer15
XM_006718843.2:c.6725del (ATM)	XP_006718906.1:p.Ser2242TyrfsTer15
XM_006718845.1:c.2681del (ATM)	XP_006718908.1:p.Ser894TyrfsTer15
XM_011542840.1:c.6725del (ATM)	XP_011541142.1:p.Ser2242TyrfsTer15
XM_011542841.1:c.6725del (ATM)	XP_011541143.1:p.Ser2242TyrfsTer15
XM_011542842.1:c.6560del (ATM)	XP_011541144.1:p.Ser2187TyrfsTer15
XM_011542843.1:c.6725del (ATM)	XP_011541145.1:p.Ser2242TyrfsTer15
XM_011542844.1:c.5681del (ATM)	XP_011541146.1:p.Ser1894TyrfsTer15
XM_011542845.1:c.5417del (ATM)	XP_011541147.1:p.Ser1806TyrfsTer15
XM_011542847.1:c.1796del (ATM)	XP_011541149.1:p.Ser599TyrfsTer15
NM_001330368.1:c.641-16391del (C11orf65)	NP_001317297.1:n.641-16391del
NM_001351110.1:c.*38+9758del (C11orf65)	NP_001338039.1:n.*38+9758del
NM_001351834.1:c.6725del (ATM)	NP_001338763.1:p.Ser2242TyrfsTer15
XM_005271562.5:c.6725del (ATM)	XP_005271619.2:p.Ser2242TyrfsTer15
XM_006718843.4:c.6725del (ATM)	XP_006718906.1:p.Ser2242TyrfsTer15
XM_006718845.2:c.2681del (ATM)	XP_006718908.1:p.Ser894TyrfsTer15
XM_011542840.3:c.6725del (ATM)	XP_011541142.1:p.Ser2242TyrfsTer15
XM_011542842.3:c.6560del (ATM)	XP_011541144.1:p.Ser2187TyrfsTer15
XM_011542843.2:c.6725del (ATM)	XP_011541145.1:p.Ser2242TyrfsTer15
XM_011542844.3:c.5681del (ATM)	XP_011541146.1:p.Ser1894TyrfsTer15
XM_011542845.2:c.5417del (ATM)	XP_011541147.1:p.Ser1806TyrfsTer15
XM_017017789.2:c.6725del (ATM)	XP_016873278.1:p.Ser2242TyrfsTer15
XM_017017790.2:c.6725del (ATM)	XP_016873279.1:p.Ser2242TyrfsTer15
NM_001330368.2:c.641-16391del (C11orf65)	NP_001317297.1:n.641-16391del
NM_001351110.2:c.*38+9758del (C11orf65)	NP_001338039.1:n.*38+9758del
NM_001351834.2:c.6725del (ATM)	NP_001338763.1:p.Ser2242TyrfsTer15
NM_000051.4:c.6725del (ATM) MANE Select	NP_000042.3:p.Ser2242TyrfsTer15