Canonical Allele Identifier: CA658656274

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 478990
• ClinVar RCV Id: RCV002465714 ; RCV003409831 ; RCV003459270
• dbSNP Id: rs1555143538
• MyVariant Identifiers: chr11:g.108225574_108225575del (hg19) ; chr11:g.108354847_108354848del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354847_108354848del , CM000673.2:g.108354847_108354848del	GRCh38
NC_000011.9:g.108225574_108225575del , CM000673.1:g.108225574_108225575del	GRCh37
NC_000011.8:g.107730784_107730785del	NCBI36
NG_009830.1:g.137016_137017del , LRG_135:g.137016_137017del
NG_054724.1:g.119988_119989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8823_8824del (ATM)	ENSP00000388058.2:p.Gln2942GlyfsTer13
ENST00000713593.1:c.*8294_*8295del (ATM)	ENSP00000518889.1:n.*8294_*8295del
ENST00000278616.9:c.8823_8824del (ATM)	ENSP00000278616.4:p.Gln2942GlyfsTer13
ENST00000638786.2:n.1521_1522del (ATM)
ENST00000682286.1:n.3580_3581del (ATM)
ENST00000682302.1:n.3241_3242del (ATM)
ENST00000683174.1:n.10307_10308del (ATM)
ENST00000683524.1:n.4047_4048del (ATM)
ENST00000684152.1:n.4239_4240del (ATM)
ENST00000684180.1:n.1297_1298del (ATM)
ENST00000684447.1:n.5316_5317del (ATM)
ENST00000527805.6:c.*3887_*3888del (ATM)	ENSP00000435747.2:n.*3887_*3888del
ENST00000675595.1:c.*3958_*3959del (ATM)	ENSP00000502563.1:n.*3958_*3959del
ENST00000675843.1:c.8823_8824del (ATM) MANE Select	ENSP00000501606.1:p.Gln2942GlyfsTer13
ENST00000278616.8:c.8823_8824del (ATM)	ENSP00000278616.4:p.Gln2942GlyfsTer13
ENST00000452508.6:c.8823_8824del (ATM)	ENSP00000388058.2:p.Gln2942GlyfsTer13
ENST00000524755.5:c.227-19553_227-19552del (C11orf65)
ENST00000524792.5:n.5038_5039del (ATM)
ENST00000525178.5:n.311_312del (ATM)
ENST00000525729.5:c.640+31075_640+31076del (C11orf65)	ENSP00000433395.1:n.640+31075_640+31076del
ENST00000526725.1:n.272-14481_272-14480del (C11orf65)
ENST00000527181.1:n.162_163del (ATM)
ENST00000527531.5:c.*1196+70_*1196+71del (C11orf65)	ENSP00000431706.1:n.*1196+70_*1196+71del
ENST00000615746.4:c.*1196+70_*1196+71del (C11orf65)	ENSP00000483537.1:n.*1196+70_*1196+71del
NM_000051.3:c.8823_8824del , LRG_135t1:c.8823_8824del (ATM)	NP_000042.3:p.Gln2942GlyfsTer13
XM_005271414.3:c.788-19553_788-19552del (C11orf65)	XP_005271471.1:n.788-19553_788-19552del
XM_005271415.3:c.732-19553_732-19552del (C11orf65)	XP_005271472.1:n.732-19553_732-19552del
XM_005271561.3:c.8823_8824del (ATM)	XP_005271618.2:p.Gln2942GlyfsTer13
XM_005271562.3:c.8823_8824del (ATM)	XP_005271619.2:p.Gln2942GlyfsTer13
XM_006718843.2:c.8823_8824del (ATM)	XP_006718906.1:p.Gln2942GlyfsTer13
XM_006718845.1:c.4779_4780del (ATM)	XP_006718908.1:p.Gln1594GlyfsTer13
XM_011542640.1:c.788-14481_788-14480del (C11orf65)	XP_011540942.1:n.788-14481_788-14480del
XM_011542642.1:c.732-5772_732-5771del (C11orf65)	XP_011540944.1:n.732-5772_732-5771del
XM_011542643.1:c.732-14481_732-14480del (C11orf65)	XP_011540945.1:n.732-14481_732-14480del
XM_011542840.1:c.8823_8824del (ATM)	XP_011541142.1:p.Gln2942GlyfsTer13
XM_011542841.1:c.8823_8824del (ATM)	XP_011541143.1:p.Gln2942GlyfsTer13
XM_011542842.1:c.8658_8659del (ATM)	XP_011541144.1:p.Gln2887GlyfsTer13
XM_011542844.1:c.7779_7780del (ATM)	XP_011541146.1:p.Gln2594GlyfsTer13
XM_011542845.1:c.7515_7516del (ATM)	XP_011541147.1:p.Gln2506GlyfsTer13
XM_011542847.1:c.3894_3895del (ATM)	XP_011541149.1:p.Gln1299GlyfsTer13
NM_001330368.1:c.640+31075_640+31076del (C11orf65)	NP_001317297.1:n.640+31075_640+31076del
NM_001351110.1:c.695-19553_695-19552del (C11orf65)	NP_001338039.1:n.695-19553_695-19552del
NM_001351834.1:c.8823_8824del (ATM)	NP_001338763.1:p.Gln2942GlyfsTer13
NR_147053.2:n.2301+70_2301+71del (C11orf65)
XM_005271414.4:c.788-19553_788-19552del (C11orf65)	XP_005271471.1:n.788-19553_788-19552del
XM_005271415.4:c.732-19553_732-19552del (C11orf65)	XP_005271472.1:n.732-19553_732-19552del
XM_005271562.5:c.8823_8824del (ATM)	XP_005271619.2:p.Gln2942GlyfsTer13
XM_006718843.4:c.8823_8824del (ATM)	XP_006718906.1:p.Gln2942GlyfsTer13
XM_006718845.2:c.4779_4780del (ATM)	XP_006718908.1:p.Gln1594GlyfsTer13
XM_011542640.2:c.788-14481_788-14480del (C11orf65)	XP_011540942.1:n.788-14481_788-14480del
XM_011542643.2:c.732-14481_732-14480del (C11orf65)	XP_011540945.1:n.732-14481_732-14480del
XM_011542840.3:c.8823_8824del (ATM)	XP_011541142.1:p.Gln2942GlyfsTer13
XM_011542842.3:c.8658_8659del (ATM)	XP_011541144.1:p.Gln2887GlyfsTer13
XM_011542844.3:c.7779_7780del (ATM)	XP_011541146.1:p.Gln2594GlyfsTer13
XM_011542845.2:c.7515_7516del (ATM)	XP_011541147.1:p.Gln2506GlyfsTer13
XM_017017247.1:c.904-14481_904-14480del (C11orf65)	XP_016872736.1:n.904-14481_904-14480del
XM_017017789.2:c.8823_8824del (ATM)	XP_016873278.1:p.Gln2942GlyfsTer13
XM_017017790.2:c.8823_8824del (ATM)	XP_016873279.1:p.Gln2942GlyfsTer13
NM_001330368.2:c.640+31075_640+31076del (C11orf65)	NP_001317297.1:n.640+31075_640+31076del
NM_001351110.2:c.695-19553_695-19552del (C11orf65)	NP_001338039.1:n.695-19553_695-19552del
NM_001351834.2:c.8823_8824del (ATM)	NP_001338763.1:p.Gln2942GlyfsTer13
NM_000051.4:c.8823_8824del (ATM) MANE Select	NP_000042.3:p.Gln2942GlyfsTer13
NR_147053.3:n.2299+70_2299+71del (C11orf65)