Canonical Allele Identifier: CA2573146568

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1361996
• ClinVar RCV Id: RCV001932066
• dbSNP Id: rs2136337304

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326172del , CM000673.2:g.108326172del	GRCh38
NC_000011.9:g.108196899del , CM000673.1:g.108196899del	GRCh37
NC_000011.8:g.107702109del	NCBI36
NG_009830.1:g.108341del , LRG_135:g.108341del
NG_054724.1:g.148661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6922del (ATM)	ENSP00000388058.2:p.Ala2308ProfsTer2
ENST00000713593.1:c.*6393del (ATM)	ENSP00000518889.1:n.*6393del
ENST00000278616.9:c.6922del (ATM)	ENSP00000278616.4:p.Ala2308ProfsTer2
ENST00000525056.2:n.1341del (ATM)
ENST00000682286.1:n.1679del (ATM)
ENST00000682302.1:n.1340del (ATM)
ENST00000683174.1:n.8406del (ATM)
ENST00000683524.1:n.2146del (ATM)
ENST00000684152.1:n.2636del (ATM)
ENST00000527805.6:c.*1986del (ATM)	ENSP00000435747.2:n.*1986del
ENST00000675595.1:c.*2057del (ATM)	ENSP00000502563.1:n.*2057del
ENST00000675843.1:c.6922del (ATM) MANE Select	ENSP00000501606.1:p.Ala2308ProfsTer2
ENST00000278616.8:c.6922del (ATM)	ENSP00000278616.4:p.Ala2308ProfsTer2
ENST00000452508.6:c.6922del (ATM)	ENSP00000388058.2:p.Ala2308ProfsTer2
ENST00000524792.5:n.3137del (ATM)
ENST00000525729.5:c.641-17101del (C11orf65)	ENSP00000433395.1:n.641-17101del
ENST00000533690.5:n.2326del (ATM)
NM_000051.3:c.6922del , LRG_135t1:c.6922del (ATM)	NP_000042.3:p.Ala2308ProfsTer2
XM_005271561.3:c.6922del (ATM)	XP_005271618.2:p.Ala2308ProfsTer2
XM_005271562.3:c.6922del (ATM)	XP_005271619.2:p.Ala2308ProfsTer2
XM_006718843.2:c.6922del (ATM)	XP_006718906.1:p.Ala2308ProfsTer2
XM_006718845.1:c.2878del (ATM)	XP_006718908.1:p.Ala960ProfsTer2
XM_011542840.1:c.6922del (ATM)	XP_011541142.1:p.Ala2308ProfsTer2
XM_011542841.1:c.6922del (ATM)	XP_011541143.1:p.Ala2308ProfsTer2
XM_011542842.1:c.6757del (ATM)	XP_011541144.1:p.Ala2253ProfsTer2
XM_011542843.1:c.6922del (ATM)	XP_011541145.1:p.Ala2308ProfsTer2
XM_011542844.1:c.5878del (ATM)	XP_011541146.1:p.Ala1960ProfsTer2
XM_011542845.1:c.5614del (ATM)	XP_011541147.1:p.Ala1872ProfsTer2
XM_011542847.1:c.1993del (ATM)	XP_011541149.1:p.Ala665ProfsTer2
NM_001330368.1:c.641-17101del (C11orf65)	NP_001317297.1:n.641-17101del
NM_001351110.1:c.*38+9048del (C11orf65)	NP_001338039.1:n.*38+9048del
NM_001351834.1:c.6922del (ATM)	NP_001338763.1:p.Ala2308ProfsTer2
XM_005271562.5:c.6922del (ATM)	XP_005271619.2:p.Ala2308ProfsTer2
XM_006718843.4:c.6922del (ATM)	XP_006718906.1:p.Ala2308ProfsTer2
XM_006718845.2:c.2878del (ATM)	XP_006718908.1:p.Ala960ProfsTer2
XM_011542840.3:c.6922del (ATM)	XP_011541142.1:p.Ala2308ProfsTer2
XM_011542842.3:c.6757del (ATM)	XP_011541144.1:p.Ala2253ProfsTer2
XM_011542843.2:c.6922del (ATM)	XP_011541145.1:p.Ala2308ProfsTer2
XM_011542844.3:c.5878del (ATM)	XP_011541146.1:p.Ala1960ProfsTer2
XM_011542845.2:c.5614del (ATM)	XP_011541147.1:p.Ala1872ProfsTer2
XM_017017789.2:c.6922del (ATM)	XP_016873278.1:p.Ala2308ProfsTer2
XM_017017790.2:c.6922del (ATM)	XP_016873279.1:p.Ala2308ProfsTer2
NM_001330368.2:c.641-17101del (C11orf65)	NP_001317297.1:n.641-17101del
NM_001351110.2:c.*38+9048del (C11orf65)	NP_001338039.1:n.*38+9048del
NM_001351834.2:c.6922del (ATM)	NP_001338763.1:p.Ala2308ProfsTer2
NM_000051.4:c.6922del (ATM) MANE Select	NP_000042.3:p.Ala2308ProfsTer2