Canonical Allele Identifier: CA2580083136
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335942_108335951delinsCAAATAGT , CM000673.2:g.108335942_108335951delinsCAAATAGT GRCh38
NC_000011.9:g.108206669_108206678delinsCAAATAGT , CM000673.1:g.108206669_108206678delinsCAAATAGT GRCh37
NC_000011.8:g.107711879_107711888delinsCAAATAGT NCBI36
NG_009830.1:g.118111_118120delinsCAAATAGT , LRG_135:g.118111_118120delinsCAAATAGT
NG_054724.1:g.138882_138891delinsACTATTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8249_8258delinsCAAATAGT (ATM) ENSP00000388058.2:p.Leu2750SerfsTer6
ENST00000713593.1:c.*7720_*7729delinsCAAATAGT (ATM) ENSP00000518889.1:n.*7720_*7729delinsCAAATAGT
ENST00000278616.9:c.8249_8258delinsCAAATAGT (ATM) ENSP00000278616.4:p.Leu2750SerfsTer6
ENST00000525056.2:n.2668_2677delinsCAAATAGT (ATM)
ENST00000638786.2:n.947_956delinsCAAATAGT (ATM)
ENST00000682286.1:n.3006_3015delinsCAAATAGT (ATM)
ENST00000682302.1:n.2667_2676delinsCAAATAGT (ATM)
ENST00000683174.1:n.9733_9742delinsCAAATAGT (ATM)
ENST00000683524.1:n.3473_3482delinsCAAATAGT (ATM)
ENST00000684152.1:n.3665_3674delinsCAAATAGT (ATM)
ENST00000684180.1:n.723_732delinsCAAATAGT (ATM)
ENST00000684447.1:n.4742_4751delinsCAAATAGT (ATM)
ENST00000527805.6:c.*3313_*3322delinsCAAATAGT (ATM) ENSP00000435747.2:n.*3313_*3322delinsCAAATAGT
ENST00000675595.1:c.*3384_*3393delinsCAAATAGT (ATM) ENSP00000502563.1:n.*3384_*3393delinsCAAATAGT
ENST00000675843.1:c.8249_8258delinsCAAATAGT (ATM) MANE Select ENSP00000501606.1:p.Leu2750SerfsTer6
ENST00000278616.8:c.8249_8258delinsCAAATAGT (ATM) ENSP00000278616.4:p.Leu2750SerfsTer6
ENST00000452508.6:c.8249_8258delinsCAAATAGT (ATM) ENSP00000388058.2:p.Leu2750SerfsTer6
ENST00000524755.5:c.227-659_227-650delinsACTATTTG (C11orf65)
ENST00000524792.5:n.4464_4473delinsCAAATAGT (ATM)
ENST00000525056.1:n.446_455delinsCAAATAGT (ATM)
ENST00000525729.5:c.641-26880_641-26871delinsACTATTTG (C11orf65) ENSP00000433395.1:n.641-26880_641-26871delinsACTATTTG
ENST00000527531.5:c.*1197-659_*1197-650delinsACTATTTG (C11orf65) ENSP00000431706.1:n.*1197-659_*1197-650delinsACTATTTG
ENST00000533979.5:n.461_470delinsCAAATAGT (ATM)
ENST00000615746.4:c.*1197-659_*1197-650delinsACTATTTG (C11orf65) ENSP00000483537.1:n.*1197-659_*1197-650delinsACTATTTG
NM_000051.3:c.8249_8258delinsCAAATAGT , LRG_135t1:c.8249_8258delinsCAAATAGT (ATM) NP_000042.3:p.Leu2750SerfsTer6
XM_005271414.3:c.788-659_788-650delinsACTATTTG (C11orf65) XP_005271471.1:n.788-659_788-650delinsACTATTTG
XM_005271415.3:c.732-659_732-650delinsACTATTTG (C11orf65) XP_005271472.1:n.732-659_732-650delinsACTATTTG
XM_005271561.3:c.8249_8258delinsCAAATAGT (ATM) XP_005271618.2:p.Leu2750SerfsTer6
XM_005271562.3:c.8249_8258delinsCAAATAGT (ATM) XP_005271619.2:p.Leu2750SerfsTer6
XM_006718843.2:c.8249_8258delinsCAAATAGT (ATM) XP_006718906.1:p.Leu2750SerfsTer6
XM_006718845.1:c.4205_4214delinsCAAATAGT (ATM) XP_006718908.1:p.Leu1402SerfsTer6
XM_011542840.1:c.8249_8258delinsCAAATAGT (ATM) XP_011541142.1:p.Leu2750SerfsTer6
XM_011542841.1:c.8249_8258delinsCAAATAGT (ATM) XP_011541143.1:p.Leu2750SerfsTer6
XM_011542842.1:c.8084_8093delinsCAAATAGT (ATM) XP_011541144.1:p.Leu2695SerfsTer6
XM_011542843.1:c.8249_8258delinsCAAATAGT (ATM) XP_011541145.1:p.Leu2750SerfsTer6
XM_011542844.1:c.7205_7214delinsCAAATAGT (ATM) XP_011541146.1:p.Leu2402SerfsTer6
XM_011542845.1:c.6941_6950delinsCAAATAGT (ATM) XP_011541147.1:p.Leu2314SerfsTer6
XM_011542847.1:c.3320_3329delinsCAAATAGT (ATM) XP_011541149.1:p.Leu1107SerfsTer6
NM_001330368.1:c.641-26880_641-26871delinsACTATTTG (C11orf65) NP_001317297.1:n.641-26880_641-26871delinsACTATTTG
NM_001351110.1:c.695-659_695-650delinsACTATTTG (C11orf65) NP_001338039.1:n.695-659_695-650delinsACTATTTG
NM_001351834.1:c.8249_8258delinsCAAATAGT (ATM) NP_001338763.1:p.Leu2750SerfsTer6
NR_147053.2:n.2302-659_2302-650delinsACTATTTG (C11orf65)
XM_005271414.4:c.788-659_788-650delinsACTATTTG (C11orf65) XP_005271471.1:n.788-659_788-650delinsACTATTTG
XM_005271415.4:c.732-659_732-650delinsACTATTTG (C11orf65) XP_005271472.1:n.732-659_732-650delinsACTATTTG
XM_005271562.5:c.8249_8258delinsCAAATAGT (ATM) XP_005271619.2:p.Leu2750SerfsTer6
XM_006718843.4:c.8249_8258delinsCAAATAGT (ATM) XP_006718906.1:p.Leu2750SerfsTer6
XM_006718845.2:c.4205_4214delinsCAAATAGT (ATM) XP_006718908.1:p.Leu1402SerfsTer6
XM_011542840.3:c.8249_8258delinsCAAATAGT (ATM) XP_011541142.1:p.Leu2750SerfsTer6
XM_011542842.3:c.8084_8093delinsCAAATAGT (ATM) XP_011541144.1:p.Leu2695SerfsTer6
XM_011542843.2:c.8249_8258delinsCAAATAGT (ATM) XP_011541145.1:p.Leu2750SerfsTer6
XM_011542844.3:c.7205_7214delinsCAAATAGT (ATM) XP_011541146.1:p.Leu2402SerfsTer6
XM_011542845.2:c.6941_6950delinsCAAATAGT (ATM) XP_011541147.1:p.Leu2314SerfsTer6
XM_017017789.2:c.8249_8258delinsCAAATAGT (ATM) XP_016873278.1:p.Leu2750SerfsTer6
XM_017017790.2:c.8249_8258delinsCAAATAGT (ATM) XP_016873279.1:p.Leu2750SerfsTer6
NM_001330368.2:c.641-26880_641-26871delinsACTATTTG (C11orf65) NP_001317297.1:n.641-26880_641-26871delinsACTATTTG
NM_001351110.2:c.695-659_695-650delinsACTATTTG (C11orf65) NP_001338039.1:n.695-659_695-650delinsACTATTTG
NM_001351834.2:c.8249_8258delinsCAAATAGT (ATM) NP_001338763.1:p.Leu2750SerfsTer6
NM_000051.4:c.8249_8258delinsCAAATAGT (ATM) MANE Select NP_000042.3:p.Leu2750SerfsTer6
NR_147053.3:n.2300-659_2300-650delinsACTATTTG (C11orf65)
Search 100 bp 5'
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