Canonical Allele Identifier: CA916080503

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 839676
• ClinVar RCV Id: RCV001041487
• dbSNP Id: rs2089695236

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354848_108354858del , CM000673.2:g.108354848_108354858del	GRCh38
NC_000011.9:g.108225575_108225585del , CM000673.1:g.108225575_108225585del	GRCh37
NC_000011.8:g.107730785_107730795del	NCBI36
NG_009830.1:g.137017_137027del , LRG_135:g.137017_137027del
NG_054724.1:g.119983_119993del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8824_8834del (ATM)	ENSP00000388058.2:p.Gln2942ValfsTer10
ENST00000713593.1:c.*8295_*8305del (ATM)	ENSP00000518889.1:n.*8295_*8305del
ENST00000278616.9:c.8824_8834del (ATM)	ENSP00000278616.4:p.Gln2942ValfsTer10
ENST00000638786.2:n.1522_1532del (ATM)
ENST00000682286.1:n.3581_3591del (ATM)
ENST00000682302.1:n.3242_3252del (ATM)
ENST00000683174.1:n.10308_10318del (ATM)
ENST00000683524.1:n.4048_4058del (ATM)
ENST00000684152.1:n.4240_4250del (ATM)
ENST00000684180.1:n.1298_1308del (ATM)
ENST00000684447.1:n.5317_5327del (ATM)
ENST00000527805.6:c.*3888_*3898del (ATM)	ENSP00000435747.2:n.*3888_*3898del
ENST00000675595.1:c.*3959_*3969del (ATM)	ENSP00000502563.1:n.*3959_*3969del
ENST00000675843.1:c.8824_8834del (ATM) MANE Select	ENSP00000501606.1:p.Gln2942ValfsTer10
ENST00000278616.8:c.8824_8834del (ATM)	ENSP00000278616.4:p.Gln2942ValfsTer10
ENST00000452508.6:c.8824_8834del (ATM)	ENSP00000388058.2:p.Gln2942ValfsTer10
ENST00000524755.5:c.227-19558_227-19548del (C11orf65)
ENST00000524792.5:n.5039_5049del (ATM)
ENST00000525178.5:n.312_322del (ATM)
ENST00000525729.5:c.640+31070_640+31080del (C11orf65)	ENSP00000433395.1:n.640+31070_640+31080de...
ENST00000526725.1:n.272-14486_272-14476del (C11orf65)
ENST00000527181.1:n.163_173del (ATM)
ENST00000527531.5:c.*1196+65_*1196+75del (C11orf65)	ENSP00000431706.1:n.*1196+65_*1196+75del
ENST00000615746.4:c.*1196+65_*1196+75del (C11orf65)	ENSP00000483537.1:n.*1196+65_*1196+75del
NM_000051.3:c.8824_8834del , LRG_135t1:c.8824_8834del (ATM)	NP_000042.3:p.Gln2942ValfsTer10
XM_005271414.3:c.788-19558_788-19548del (C11orf65)	XP_005271471.1:n.788-19558_788-19548del
XM_005271415.3:c.732-19558_732-19548del (C11orf65)	XP_005271472.1:n.732-19558_732-19548del
XM_005271561.3:c.8824_8834del (ATM)	XP_005271618.2:p.Gln2942ValfsTer10
XM_005271562.3:c.8824_8834del (ATM)	XP_005271619.2:p.Gln2942ValfsTer10
XM_006718843.2:c.8824_8834del (ATM)	XP_006718906.1:p.Gln2942ValfsTer10
XM_006718845.1:c.4780_4790del (ATM)	XP_006718908.1:p.Gln1594ValfsTer10
XM_011542640.1:c.788-14486_788-14476del (C11orf65)	XP_011540942.1:n.788-14486_788-14476del
XM_011542642.1:c.732-5777_732-5767del (C11orf65)	XP_011540944.1:n.732-5777_732-5767del
XM_011542643.1:c.732-14486_732-14476del (C11orf65)	XP_011540945.1:n.732-14486_732-14476del
XM_011542840.1:c.8824_8834del (ATM)	XP_011541142.1:p.Gln2942ValfsTer10
XM_011542841.1:c.8824_8834del (ATM)	XP_011541143.1:p.Gln2942ValfsTer10
XM_011542842.1:c.8659_8669del (ATM)	XP_011541144.1:p.Gln2887ValfsTer10
XM_011542844.1:c.7780_7790del (ATM)	XP_011541146.1:p.Gln2594ValfsTer10
XM_011542845.1:c.7516_7526del (ATM)	XP_011541147.1:p.Gln2506ValfsTer10
XM_011542847.1:c.3895_3905del (ATM)	XP_011541149.1:p.Gln1299ValfsTer10
NM_001330368.1:c.640+31070_640+31080del (C11orf65)	NP_001317297.1:n.640+31070_640+31080del
NM_001351110.1:c.695-19558_695-19548del (C11orf65)	NP_001338039.1:n.695-19558_695-19548del
NM_001351834.1:c.8824_8834del (ATM)	NP_001338763.1:p.Gln2942ValfsTer10
NR_147053.2:n.2301+65_2301+75del (C11orf65)
XM_005271414.4:c.788-19558_788-19548del (C11orf65)	XP_005271471.1:n.788-19558_788-19548del
XM_005271415.4:c.732-19558_732-19548del (C11orf65)	XP_005271472.1:n.732-19558_732-19548del
XM_005271562.5:c.8824_8834del (ATM)	XP_005271619.2:p.Gln2942ValfsTer10
XM_006718843.4:c.8824_8834del (ATM)	XP_006718906.1:p.Gln2942ValfsTer10
XM_006718845.2:c.4780_4790del (ATM)	XP_006718908.1:p.Gln1594ValfsTer10
XM_011542640.2:c.788-14486_788-14476del (C11orf65)	XP_011540942.1:n.788-14486_788-14476del
XM_011542643.2:c.732-14486_732-14476del (C11orf65)	XP_011540945.1:n.732-14486_732-14476del
XM_011542840.3:c.8824_8834del (ATM)	XP_011541142.1:p.Gln2942ValfsTer10
XM_011542842.3:c.8659_8669del (ATM)	XP_011541144.1:p.Gln2887ValfsTer10
XM_011542844.3:c.7780_7790del (ATM)	XP_011541146.1:p.Gln2594ValfsTer10
XM_011542845.2:c.7516_7526del (ATM)	XP_011541147.1:p.Gln2506ValfsTer10
XM_017017247.1:c.904-14486_904-14476del (C11orf65)	XP_016872736.1:n.904-14486_904-14476del
XM_017017789.2:c.8824_8834del (ATM)	XP_016873278.1:p.Gln2942ValfsTer10
XM_017017790.2:c.8824_8834del (ATM)	XP_016873279.1:p.Gln2942ValfsTer10
NM_001330368.2:c.640+31070_640+31080del (C11orf65)	NP_001317297.1:n.640+31070_640+31080del
NM_001351110.2:c.695-19558_695-19548del (C11orf65)	NP_001338039.1:n.695-19558_695-19548del
NM_001351834.2:c.8824_8834del (ATM)	NP_001338763.1:p.Gln2942ValfsTer10
NM_000051.4:c.8824_8834del (ATM) MANE Select	NP_000042.3:p.Gln2942ValfsTer10
NR_147053.3:n.2299+65_2299+75del (C11orf65)