Canonical Allele Identifier: CA197972

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 187566
• ClinVar RCV Id: RCV000167305 ; RCV001238094
• dbSNP Id: rs786203830
• MyVariant Identifiers: chr11:g.108203516_108203518del (hg19) ; chr11:g.108332789_108332791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332789_108332791del , CM000673.2:g.108332789_108332791del	GRCh38
NC_000011.9:g.108203516_108203518del , CM000673.1:g.108203516_108203518del	GRCh37
NC_000011.8:g.107708726_107708728del	NCBI36
NG_009830.1:g.114958_114960del , LRG_135:g.114958_114960del
NG_054724.1:g.142046_142048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7816_7818del (ATM)	ENSP00000388058.2:p.Ile2606del
ENST00000713593.1:c.*7287_*7289del (ATM)	ENSP00000518889.1:n.*7287_*7289del
ENST00000278616.9:c.7816_7818del (ATM)	ENSP00000278616.4:p.Ile2606del
ENST00000525056.2:n.2235_2237del (ATM)
ENST00000525537.3:n.1497_1499del (ATM)
ENST00000638786.2:n.625+752_625+754del (ATM)
ENST00000682286.1:n.2573_2575del (ATM)
ENST00000682302.1:n.2234_2236del (ATM)
ENST00000683174.1:n.9300_9302del (ATM)
ENST00000683524.1:n.3040_3042del (ATM)
ENST00000684152.1:n.3344-1097_3344-1095del (ATM)
ENST00000684180.1:n.290_292del (ATM)
ENST00000684447.1:n.3324_3326del (ATM)
ENST00000527805.6:c.*2880_*2882del (ATM)	ENSP00000435747.2:n.*2880_*2882del
ENST00000675595.1:c.*2951_*2953del (ATM)	ENSP00000502563.1:n.*2951_*2953del
ENST00000675843.1:c.7816_7818del (ATM) MANE Select	ENSP00000501606.1:p.Ile2606del
ENST00000278616.8:c.7816_7818del (ATM)	ENSP00000278616.4:p.Ile2606del
ENST00000452508.6:c.7816_7818del (ATM)	ENSP00000388058.2:p.Ile2606del
ENST00000524755.5:c.300-1220_300-1218del (C11orf65)
ENST00000524792.5:n.4031_4033del (ATM)
ENST00000525056.1:n.13_15del (ATM)
ENST00000525729.5:c.641-23716_641-23714del (C11orf65)	ENSP00000433395.1:n.641-23716_641-23714del
ENST00000527531.5:c.*1270-1220_*1270-1218del (C11orf65)	ENSP00000431706.1:n.*1270-1220_*1270-1218del
ENST00000533690.5:n.3220_3222del (ATM)
ENST00000533979.5:n.28_30del (ATM)
ENST00000615746.4:c.*1270-1220_*1270-1218del (C11orf65)	ENSP00000483537.1:n.*1270-1220_*1270-1218del
NM_000051.3:c.7816_7818del , LRG_135t1:c.7816_7818del (ATM)	NP_000042.3:p.Ile2606del
XM_005271414.3:c.*39-1220_*39-1218del (C11orf65)	XP_005271471.1:n.*39-1220_*39-1218del
XM_005271415.3:c.805-1220_805-1218del (C11orf65)	XP_005271472.1:n.805-1220_805-1218del
XM_005271561.3:c.7816_7818del (ATM)	XP_005271618.2:p.Ile2606del
XM_005271562.3:c.7816_7818del (ATM)	XP_005271619.2:p.Ile2606del
XM_006718843.2:c.7816_7818del (ATM)	XP_006718906.1:p.Ile2606del
XM_006718845.1:c.3772_3774del (ATM)	XP_006718908.1:p.Ile1258del
XM_011542840.1:c.7816_7818del (ATM)	XP_011541142.1:p.Ile2606del
XM_011542841.1:c.7816_7818del (ATM)	XP_011541143.1:p.Ile2606del
XM_011542842.1:c.7651_7653del (ATM)	XP_011541144.1:p.Ile2551del
XM_011542843.1:c.7816_7818del (ATM)	XP_011541145.1:p.Ile2606del
XM_011542844.1:c.6772_6774del (ATM)	XP_011541146.1:p.Ile2258del
XM_011542845.1:c.6508_6510del (ATM)	XP_011541147.1:p.Ile2170del
XM_011542847.1:c.2887_2889del (ATM)	XP_011541149.1:p.Ile963del
NM_001330368.1:c.641-23716_641-23714del (C11orf65)	NP_001317297.1:n.641-23716_641-23714del
NM_001351110.1:c.*38+2433_*38+2435del (C11orf65)	NP_001338039.1:n.*38+2433_*38+2435del
NM_001351834.1:c.7816_7818del (ATM)	NP_001338763.1:p.Ile2606del
NR_147053.2:n.2375-1220_2375-1218del (C11orf65)
XM_005271414.4:c.*39-1220_*39-1218del (C11orf65)	XP_005271471.1:n.*39-1220_*39-1218del
XM_005271415.4:c.805-1220_805-1218del (C11orf65)	XP_005271472.1:n.805-1220_805-1218del
XM_005271562.5:c.7816_7818del (ATM)	XP_005271619.2:p.Ile2606del
XM_006718843.4:c.7816_7818del (ATM)	XP_006718906.1:p.Ile2606del
XM_006718845.2:c.3772_3774del (ATM)	XP_006718908.1:p.Ile1258del
XM_011542840.3:c.7816_7818del (ATM)	XP_011541142.1:p.Ile2606del
XM_011542842.3:c.7651_7653del (ATM)	XP_011541144.1:p.Ile2551del
XM_011542843.2:c.7816_7818del (ATM)	XP_011541145.1:p.Ile2606del
XM_011542844.3:c.6772_6774del (ATM)	XP_011541146.1:p.Ile2258del
XM_011542845.2:c.6508_6510del (ATM)	XP_011541147.1:p.Ile2170del
XM_017017789.2:c.7816_7818del (ATM)	XP_016873278.1:p.Ile2606del
XM_017017790.2:c.7816_7818del (ATM)	XP_016873279.1:p.Ile2606del
NM_001330368.2:c.641-23716_641-23714del (C11orf65)	NP_001317297.1:n.641-23716_641-23714del
NM_001351110.2:c.*38+2433_*38+2435del (C11orf65)	NP_001338039.1:n.*38+2433_*38+2435del
NM_001351834.2:c.7816_7818del (ATM)	NP_001338763.1:p.Ile2606del
NM_000051.4:c.7816_7818del (ATM) MANE Select	NP_000042.3:p.Ile2606del
NR_147053.3:n.2373-1220_2373-1218del (C11orf65)