Canonical Allele Identifier: CA2697558919

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2711983
• ClinVar RCV Id: RCV003501329

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315869_108315871del , CM000673.2:g.108315869_108315871del	GRCh38
NC_000011.9:g.108186596_108186598del , CM000673.1:g.108186596_108186598del	GRCh37
NC_000011.8:g.107691806_107691808del	NCBI36
NG_009830.1:g.98038_98040del , LRG_135:g.98038_98040del
NG_054724.1:g.158963_158965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6053_6055del (ATM)	ENSP00000388058.2:p.Leu2018del
ENST00000713593.1:c.*5524_*5526del (ATM)	ENSP00000518889.1:n.*5524_*5526del
ENST00000278616.9:c.6053_6055del (ATM)	ENSP00000278616.4:p.Leu2018del
ENST00000525056.2:n.472_474del (ATM)
ENST00000682286.1:n.810_812del (ATM)
ENST00000682302.1:n.471_473del (ATM)
ENST00000683174.1:n.7537_7539del (ATM)
ENST00000683524.1:n.1277_1279del (ATM)
ENST00000684152.1:n.1767_1769del (ATM)
ENST00000527805.6:c.*1117_*1119del (ATM)	ENSP00000435747.2:n.*1117_*1119del
ENST00000675595.1:c.*1117_*1119del (ATM)	ENSP00000502563.1:n.*1117_*1119del
ENST00000675843.1:c.6053_6055del (ATM) MANE Select	ENSP00000501606.1:p.Leu2018del
ENST00000278616.8:c.6053_6055del (ATM)	ENSP00000278616.4:p.Leu2018del
ENST00000452508.6:c.6053_6055del (ATM)	ENSP00000388058.2:p.Leu2018del
ENST00000524792.5:n.2268_2270del (ATM)
ENST00000525729.5:c.641-6799_641-6797del (C11orf65)	ENSP00000433395.1:n.641-6799_641-6797del
ENST00000529588.5:c.477_479del (ATM)
ENST00000532765.1:n.370_372del (ATM)
ENST00000533690.5:n.1457_1459del (ATM)
NM_000051.3:c.6053_6055del , LRG_135t1:c.6053_6055del (ATM)	NP_000042.3:p.Leu2018del
XM_005271561.3:c.6053_6055del (ATM)	XP_005271618.2:p.Leu2018del
XM_005271562.3:c.6053_6055del (ATM)	XP_005271619.2:p.Leu2018del
XM_006718843.2:c.6053_6055del (ATM)	XP_006718906.1:p.Leu2018del
XM_006718845.1:c.2009_2011del (ATM)	XP_006718908.1:p.Leu670del
XM_011542840.1:c.6053_6055del (ATM)	XP_011541142.1:p.Leu2018del
XM_011542841.1:c.6053_6055del (ATM)	XP_011541143.1:p.Leu2018del
XM_011542842.1:c.5888_5890del (ATM)	XP_011541144.1:p.Leu1963del
XM_011542843.1:c.6053_6055del (ATM)	XP_011541145.1:p.Leu2018del
XM_011542844.1:c.5009_5011del (ATM)	XP_011541146.1:p.Leu1670del
XM_011542845.1:c.4745_4747del (ATM)	XP_011541147.1:p.Leu1582del
XM_011542847.1:c.1124_1126del (ATM)	XP_011541149.1:p.Leu375del
NM_001330368.1:c.641-6799_641-6797del (C11orf65)	NP_001317297.1:n.641-6799_641-6797del
NM_001351110.1:c.*39-6799_*39-6797del (C11orf65)	NP_001338039.1:n.*39-6799_*39-6797del
NM_001351834.1:c.6053_6055del (ATM)	NP_001338763.1:p.Leu2018del
XM_005271562.5:c.6053_6055del (ATM)	XP_005271619.2:p.Leu2018del
XM_006718843.4:c.6053_6055del (ATM)	XP_006718906.1:p.Leu2018del
XM_006718845.2:c.2009_2011del (ATM)	XP_006718908.1:p.Leu670del
XM_011542840.3:c.6053_6055del (ATM)	XP_011541142.1:p.Leu2018del
XM_011542842.3:c.5888_5890del (ATM)	XP_011541144.1:p.Leu1963del
XM_011542843.2:c.6053_6055del (ATM)	XP_011541145.1:p.Leu2018del
XM_011542844.3:c.5009_5011del (ATM)	XP_011541146.1:p.Leu1670del
XM_011542845.2:c.4745_4747del (ATM)	XP_011541147.1:p.Leu1582del
XM_017017789.2:c.6053_6055del (ATM)	XP_016873278.1:p.Leu2018del
XM_017017790.2:c.6053_6055del (ATM)	XP_016873279.1:p.Leu2018del
XM_017017791.1:c.6053_6055del (ATM)	XP_016873280.1:p.Leu2018del
NM_001330368.2:c.641-6799_641-6797del (C11orf65)	NP_001317297.1:n.641-6799_641-6797del
NM_001351110.2:c.*39-6799_*39-6797del (C11orf65)	NP_001338039.1:n.*39-6799_*39-6797del
NM_001351834.2:c.6053_6055del (ATM)	NP_001338763.1:p.Leu2018del
NM_000051.4:c.6053_6055del (ATM) MANE Select	NP_000042.3:p.Leu2018del