Canonical Allele Identifier: CA658656175

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 449232
• ClinVar RCV Id: RCV001245852 ; RCV002358406
• dbSNP Id: rs1555113523

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315829delinsAA , CM000673.2:g.108315829delinsAA	GRCh38
NC_000011.9:g.108186556delinsAA , CM000673.1:g.108186556delinsAA	GRCh37
NC_000011.8:g.107691766delinsAA	NCBI36
NG_009830.1:g.97998delinsAA , LRG_135:g.97998delinsAA
NG_054724.1:g.159004delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6013delinsAA (ATM)	ENSP00000388058.2:p.Leu2005AsnfsTer13
ENST00000713593.1:c.*5484delinsAA (ATM)	ENSP00000518889.1:n.*5484delinsAA
ENST00000278616.9:c.6013delinsAA (ATM)	ENSP00000278616.4:p.Leu2005AsnfsTer13
ENST00000525056.2:n.432delinsAA (ATM)
ENST00000682286.1:n.770delinsAA (ATM)
ENST00000682302.1:n.431delinsAA (ATM)
ENST00000683174.1:n.7497delinsAA (ATM)
ENST00000683524.1:n.1237delinsAA (ATM)
ENST00000684152.1:n.1727delinsAA (ATM)
ENST00000527805.6:c.*1077delinsAA (ATM)	ENSP00000435747.2:n.*1077delinsAA
ENST00000675595.1:c.*1077delinsAA (ATM)	ENSP00000502563.1:n.*1077delinsAA
ENST00000675843.1:c.6013delinsAA (ATM) MANE Select	ENSP00000501606.1:p.Leu2005AsnfsTer13
ENST00000278616.8:c.6013delinsAA (ATM)	ENSP00000278616.4:p.Leu2005AsnfsTer13
ENST00000452508.6:c.6013delinsAA (ATM)	ENSP00000388058.2:p.Leu2005AsnfsTer13
ENST00000524792.5:n.2228delinsAA (ATM)
ENST00000525729.5:c.641-6758delinsTT (C11orf65)	ENSP00000433395.1:n.641-6758delinsTT
ENST00000529588.5:c.437delinsAA (ATM)
ENST00000532765.1:n.330delinsAA (ATM)
ENST00000533690.5:n.1417delinsAA (ATM)
NM_000051.3:c.6013delinsAA , LRG_135t1:c.6013delinsAA (ATM)	NP_000042.3:p.Leu2005AsnfsTer13
XM_005271561.3:c.6013delinsAA (ATM)	XP_005271618.2:p.Leu2005AsnfsTer13
XM_005271562.3:c.6013delinsAA (ATM)	XP_005271619.2:p.Leu2005AsnfsTer13
XM_006718843.2:c.6013delinsAA (ATM)	XP_006718906.1:p.Leu2005AsnfsTer13
XM_006718845.1:c.1969delinsAA (ATM)	XP_006718908.1:p.Leu657AsnfsTer13
XM_011542840.1:c.6013delinsAA (ATM)	XP_011541142.1:p.Leu2005AsnfsTer13
XM_011542841.1:c.6013delinsAA (ATM)	XP_011541143.1:p.Leu2005AsnfsTer13
XM_011542842.1:c.5848delinsAA (ATM)	XP_011541144.1:p.Leu1950AsnfsTer13
XM_011542843.1:c.6013delinsAA (ATM)	XP_011541145.1:p.Leu2005AsnfsTer13
XM_011542844.1:c.4969delinsAA (ATM)	XP_011541146.1:p.Leu1657AsnfsTer13
XM_011542845.1:c.4705delinsAA (ATM)	XP_011541147.1:p.Leu1569AsnfsTer13
XM_011542847.1:c.1084delinsAA (ATM)	XP_011541149.1:p.Leu362AsnfsTer13
NM_001330368.1:c.641-6758delinsTT (C11orf65)	NP_001317297.1:n.641-6758delinsTT
NM_001351110.1:c.*39-6758delinsTT (C11orf65)	NP_001338039.1:n.*39-6758delinsTT
NM_001351834.1:c.6013delinsAA (ATM)	NP_001338763.1:p.Leu2005AsnfsTer13
XM_005271562.5:c.6013delinsAA (ATM)	XP_005271619.2:p.Leu2005AsnfsTer13
XM_006718843.4:c.6013delinsAA (ATM)	XP_006718906.1:p.Leu2005AsnfsTer13
XM_006718845.2:c.1969delinsAA (ATM)	XP_006718908.1:p.Leu657AsnfsTer13
XM_011542840.3:c.6013delinsAA (ATM)	XP_011541142.1:p.Leu2005AsnfsTer13
XM_011542842.3:c.5848delinsAA (ATM)	XP_011541144.1:p.Leu1950AsnfsTer13
XM_011542843.2:c.6013delinsAA (ATM)	XP_011541145.1:p.Leu2005AsnfsTer13
XM_011542844.3:c.4969delinsAA (ATM)	XP_011541146.1:p.Leu1657AsnfsTer13
XM_011542845.2:c.4705delinsAA (ATM)	XP_011541147.1:p.Leu1569AsnfsTer13
XM_017017789.2:c.6013delinsAA (ATM)	XP_016873278.1:p.Leu2005AsnfsTer13
XM_017017790.2:c.6013delinsAA (ATM)	XP_016873279.1:p.Leu2005AsnfsTer13
XM_017017791.1:c.6013delinsAA (ATM)	XP_016873280.1:p.Leu2005AsnfsTer13
NM_001330368.2:c.641-6758delinsTT (C11orf65)	NP_001317297.1:n.641-6758delinsTT
NM_001351110.2:c.*39-6758delinsTT (C11orf65)	NP_001338039.1:n.*39-6758delinsTT
NM_001351834.2:c.6013delinsAA (ATM)	NP_001338763.1:p.Leu2005AsnfsTer13
NM_000051.4:c.6013delinsAA (ATM) MANE Select	NP_000042.3:p.Leu2005AsnfsTer13