Canonical Allele Identifier: CA658797754
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335857_108335874del , CM000673.2:g.108335857_108335874del GRCh38
NC_000011.9:g.108206584_108206601del , CM000673.1:g.108206584_108206601del GRCh37
NC_000011.8:g.107711794_107711811del NCBI36
NG_009830.1:g.118026_118043del , LRG_135:g.118026_118043del
NG_054724.1:g.138960_138977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8164_8181del (ATM) ENSP00000388058.2:p.Leu2722_Val2727del
ENST00000713593.1:c.*7635_*7652del (ATM) ENSP00000518889.1:n.*7635_*7652del
ENST00000278616.9:c.8164_8181del (ATM) ENSP00000278616.4:p.Leu2722_Val2727del
ENST00000525056.2:n.2583_2600del (ATM)
ENST00000638786.2:n.862_879del (ATM)
ENST00000682286.1:n.2921_2938del (ATM)
ENST00000682302.1:n.2582_2599del (ATM)
ENST00000683174.1:n.9648_9665del (ATM)
ENST00000683524.1:n.3388_3405del (ATM)
ENST00000684152.1:n.3580_3597del (ATM)
ENST00000684180.1:n.638_655del (ATM)
ENST00000684447.1:n.4657_4674del (ATM)
ENST00000527805.6:c.*3228_*3245del (ATM) ENSP00000435747.2:n.*3228_*3245del
ENST00000675595.1:c.*3299_*3316del (ATM) ENSP00000502563.1:n.*3299_*3316del
ENST00000675843.1:c.8164_8181del (ATM) MANE Select ENSP00000501606.1:p.Leu2722_Val2727del
ENST00000278616.8:c.8164_8181del (ATM) ENSP00000278616.4:p.Leu2722_Val2727del
ENST00000452508.6:c.8164_8181del (ATM) ENSP00000388058.2:p.Leu2722_Val2727del
ENST00000524755.5:c.227-581_227-564del (C11orf65)
ENST00000524792.5:n.4379_4396del (ATM)
ENST00000525056.1:n.361_378del (ATM)
ENST00000525729.5:c.641-26802_641-26785del (C11orf65) ENSP00000433395.1:n.641-26802_641-26785del
ENST00000527531.5:c.*1197-581_*1197-564del (C11orf65) ENSP00000431706.1:n.*1197-581_*1197-564del
ENST00000533979.5:n.376_393del (ATM)
ENST00000615746.4:c.*1197-581_*1197-564del (C11orf65) ENSP00000483537.1:n.*1197-581_*1197-564del
NM_000051.3:c.8164_8181del , LRG_135t1:c.8164_8181del (ATM) NP_000042.3:p.Leu2722_Val2727del
XM_005271414.3:c.788-581_788-564del (C11orf65) XP_005271471.1:n.788-581_788-564del
XM_005271415.3:c.732-581_732-564del (C11orf65) XP_005271472.1:n.732-581_732-564del
XM_005271561.3:c.8164_8181del (ATM) XP_005271618.2:p.Leu2722_Val2727del
XM_005271562.3:c.8164_8181del (ATM) XP_005271619.2:p.Leu2722_Val2727del
XM_006718843.2:c.8164_8181del (ATM) XP_006718906.1:p.Leu2722_Val2727del
XM_006718845.1:c.4120_4137del (ATM) XP_006718908.1:p.Leu1374_Val1379del
XM_011542840.1:c.8164_8181del (ATM) XP_011541142.1:p.Leu2722_Val2727del
XM_011542841.1:c.8164_8181del (ATM) XP_011541143.1:p.Leu2722_Val2727del
XM_011542842.1:c.7999_8016del (ATM) XP_011541144.1:p.Leu2667_Val2672del
XM_011542843.1:c.8164_8181del (ATM) XP_011541145.1:p.Leu2722_Val2727del
XM_011542844.1:c.7120_7137del (ATM) XP_011541146.1:p.Leu2374_Val2379del
XM_011542845.1:c.6856_6873del (ATM) XP_011541147.1:p.Leu2286_Val2291del
XM_011542847.1:c.3235_3252del (ATM) XP_011541149.1:p.Leu1079_Val1084del
NM_001330368.1:c.641-26802_641-26785del (C11orf65) NP_001317297.1:n.641-26802_641-26785del
NM_001351110.1:c.695-581_695-564del (C11orf65) NP_001338039.1:n.695-581_695-564del
NM_001351834.1:c.8164_8181del (ATM) NP_001338763.1:p.Leu2722_Val2727del
NR_147053.2:n.2302-581_2302-564del (C11orf65)
XM_005271414.4:c.788-581_788-564del (C11orf65) XP_005271471.1:n.788-581_788-564del
XM_005271415.4:c.732-581_732-564del (C11orf65) XP_005271472.1:n.732-581_732-564del
XM_005271562.5:c.8164_8181del (ATM) XP_005271619.2:p.Leu2722_Val2727del
XM_006718843.4:c.8164_8181del (ATM) XP_006718906.1:p.Leu2722_Val2727del
XM_006718845.2:c.4120_4137del (ATM) XP_006718908.1:p.Leu1374_Val1379del
XM_011542840.3:c.8164_8181del (ATM) XP_011541142.1:p.Leu2722_Val2727del
XM_011542842.3:c.7999_8016del (ATM) XP_011541144.1:p.Leu2667_Val2672del
XM_011542843.2:c.8164_8181del (ATM) XP_011541145.1:p.Leu2722_Val2727del
XM_011542844.3:c.7120_7137del (ATM) XP_011541146.1:p.Leu2374_Val2379del
XM_011542845.2:c.6856_6873del (ATM) XP_011541147.1:p.Leu2286_Val2291del
XM_017017789.2:c.8164_8181del (ATM) XP_016873278.1:p.Leu2722_Val2727del
XM_017017790.2:c.8164_8181del (ATM) XP_016873279.1:p.Leu2722_Val2727del
NM_001330368.2:c.641-26802_641-26785del (C11orf65) NP_001317297.1:n.641-26802_641-26785del
NM_001351110.2:c.695-581_695-564del (C11orf65) NP_001338039.1:n.695-581_695-564del
NM_001351834.2:c.8164_8181del (ATM) NP_001338763.1:p.Leu2722_Val2727del
NM_000051.4:c.8164_8181del (ATM) MANE Select NP_000042.3:p.Leu2722_Val2727del
NR_147053.3:n.2300-581_2300-564del (C11orf65)