Canonical Allele Identifier: CA16619269
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 422275
dbSNP Id: rs1064795675

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108365149_108365160delinsTGT , CM000673.2:g.108365149_108365160delinsTGT GRCh38
NC_000011.9:g.108235876_108235887delinsTGT , CM000673.1:g.108235876_108235887delinsTGT GRCh37
NC_000011.8:g.107741086_107741097delinsTGT NCBI36
NG_009830.1:g.147318_147329delinsTGT , LRG_135:g.147318_147329delinsTGT
NG_054724.1:g.109673_109684delinsACA

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.8918_8929delinsTGT (ATM) ENSP00000388058.2:p.Arg2973MetfsTer2
ENST00000713593.1:c.*8389_*8400delinsTGT (ATM) ENSP00000518889.1:n.*8389_*8400delinsTGT
ENST00000278616.9:c.8918_8929delinsTGT (ATM) ENSP00000278616.4:p.Arg2973MetfsTer2
ENST00000638786.2:n.1616_1627delinsTGT (ATM)
ENST00000682286.1:n.3675_3686delinsTGT (ATM)
ENST00000682302.1:n.3336_3347delinsTGT (ATM)
ENST00000682569.1:n.2265_2276delinsTGT (ATM)
ENST00000683174.1:n.10402_10413delinsTGT (ATM)
ENST00000683524.1:n.4142_4153delinsTGT (ATM)
ENST00000684152.1:n.4334_4345delinsTGT (ATM)
ENST00000684180.1:n.1392_1403delinsTGT (ATM)
ENST00000684447.1:n.5411_5422delinsTGT (ATM)
ENST00000527805.6:c.*3982_*3993delinsTGT (ATM) ENSP00000435747.2:n.*3982_*3993delinsTGT
ENST00000675595.1:c.*4053_*4064delinsTGT (ATM) ENSP00000502563.1:n.*4053_*4064delinsTGT
ENST00000675843.1:c.8918_8929delinsTGT (ATM) MANE Select ENSP00000501606.1:p.Arg2973MetfsTer2
ENST00000278616.8:c.8918_8929delinsTGT (ATM) ENSP00000278616.4:p.Arg2973MetfsTer2
ENST00000452508.6:c.8918_8929delinsTGT (ATM) ENSP00000388058.2:p.Arg2973MetfsTer2
ENST00000524755.5:c.226+28048_226+28059delinsACA (C11orf65)
ENST00000524792.5:n.5133_5144delinsTGT (ATM)
ENST00000525178.5:n.406_417delinsTGT (ATM)
ENST00000525729.5:c.640+20760_640+20771delinsACA (C11orf65) ENSP00000433395.1:n.640+20760_640+20771de...
ENST00000526725.1:n.272-24796_272-24785delinsACA (C11orf65)
ENST00000527181.1:n.257_268delinsTGT (ATM)
ENST00000527531.5:c.*2-9051_*2-9040delinsACA (C11orf65) ENSP00000431706.1:n.*2-9051_*2-9040delins...
ENST00000615746.4:c.*2-9051_*2-9040delinsACA (C11orf65) ENSP00000483537.1:n.*2-9051_*2-9040delins...
NM_000051.3:c.8918_8929delinsTGT , LRG_135t1:c.8918_8929delinsTGT (ATM) NP_000042.3:p.Arg2973MetfsTer2
XM_005271414.3:c.787+20760_787+20771delinsACA (C11orf65) XP_005271471.1:n.787+20760_787+20771delin...
XM_005271415.3:c.731+28048_731+28059delinsACA (C11orf65) XP_005271472.1:n.731+28048_731+28059delin...
XM_005271561.3:c.8918_8929delinsTGT (ATM) XP_005271618.2:p.Arg2973MetfsTer2
XM_005271562.3:c.8918_8929delinsTGT (ATM) XP_005271619.2:p.Arg2973MetfsTer2
XM_006718843.2:c.8918_8929delinsTGT (ATM) XP_006718906.1:p.Arg2973MetfsTer2
XM_006718845.1:c.4874_4885delinsTGT (ATM) XP_006718908.1:p.Arg1625MetfsTer2
XM_011542640.1:c.787+20760_787+20771delinsACA (C11orf65) XP_011540942.1:n.787+20760_787+20771delin...
XM_011542642.1:c.732-16087_732-16076delinsACA (C11orf65) XP_011540944.1:n.732-16087_732-16076delin...
XM_011542643.1:c.732-24796_732-24785delinsACA (C11orf65) XP_011540945.1:n.732-24796_732-24785delin...
XM_011542840.1:c.8918_8929delinsTGT (ATM) XP_011541142.1:p.Arg2973MetfsTer2
XM_011542841.1:c.8918_8929delinsTGT (ATM) XP_011541143.1:p.Arg2973MetfsTer2
XM_011542842.1:c.8753_8764delinsTGT (ATM) XP_011541144.1:p.Arg2918MetfsTer2
XM_011542844.1:c.7874_7885delinsTGT (ATM) XP_011541146.1:p.Arg2625MetfsTer2
XM_011542845.1:c.7610_7621delinsTGT (ATM) XP_011541147.1:p.Arg2537MetfsTer2
XM_011542847.1:c.3989_4000delinsTGT (ATM) XP_011541149.1:p.Arg1330MetfsTer2
NM_001330368.1:c.640+20760_640+20771delinsACA (C11orf65) NP_001317297.1:n.640+20760_640+20771delin...
NM_001351110.1:c.694+20760_694+20771delinsACA (C11orf65) NP_001338039.1:n.694+20760_694+20771delin...
NM_001351834.1:c.8918_8929delinsTGT (ATM) NP_001338763.1:p.Arg2973MetfsTer2
NR_147053.2:n.1107-9051_1107-9040delinsACA (C11orf65)
XM_005271414.4:c.787+20760_787+20771delinsACA (C11orf65) XP_005271471.1:n.787+20760_787+20771delin...
XM_005271415.4:c.731+28048_731+28059delinsACA (C11orf65) XP_005271472.1:n.731+28048_731+28059delin...
XM_005271562.5:c.8918_8929delinsTGT (ATM) XP_005271619.2:p.Arg2973MetfsTer2
XM_006718843.4:c.8918_8929delinsTGT (ATM) XP_006718906.1:p.Arg2973MetfsTer2
XM_006718845.2:c.4874_4885delinsTGT (ATM) XP_006718908.1:p.Arg1625MetfsTer2
XM_011542640.2:c.787+20760_787+20771delinsACA (C11orf65) XP_011540942.1:n.787+20760_787+20771delin...
XM_011542643.2:c.732-24796_732-24785delinsACA (C11orf65) XP_011540945.1:n.732-24796_732-24785delin...
XM_011542840.3:c.8918_8929delinsTGT (ATM) XP_011541142.1:p.Arg2973MetfsTer2
XM_011542842.3:c.8753_8764delinsTGT (ATM) XP_011541144.1:p.Arg2918MetfsTer2
XM_011542844.3:c.7874_7885delinsTGT (ATM) XP_011541146.1:p.Arg2625MetfsTer2
XM_011542845.2:c.7610_7621delinsTGT (ATM) XP_011541147.1:p.Arg2537MetfsTer2
XM_017017247.1:c.903+17900_903+17911delinsACA (C11orf65) XP_016872736.1:n.903+17900_903+17911delin...
XM_017017789.2:c.8918_8929delinsTGT (ATM) XP_016873278.1:p.Arg2973MetfsTer2
XM_017017790.2:c.8918_8929delinsTGT (ATM) XP_016873279.1:p.Arg2973MetfsTer2
NM_001330368.2:c.640+20760_640+20771delinsACA (C11orf65) NP_001317297.1:n.640+20760_640+20771delin...
NM_001351110.2:c.694+20760_694+20771delinsACA (C11orf65) NP_001338039.1:n.694+20760_694+20771delin...
NM_001351834.2:c.8918_8929delinsTGT (ATM) NP_001338763.1:p.Arg2973MetfsTer2
NM_000051.4:c.8918_8929delinsTGT (ATM) MANE Select NP_000042.3:p.Arg2973MetfsTer2
NR_147053.3:n.1105-9051_1105-9040delinsACA (C11orf65)