Canonical Allele Identifier: CA1998811018
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332720_108332721delinsTG , CM000673.2:g.108332720_108332721delinsTG GRCh38
NC_000011.9:g.108203447_108203448delinsTG , CM000673.1:g.108203447_108203448delinsTG GRCh37
NC_000011.8:g.107708657_107708658delinsTG NCBI36
NG_009830.1:g.114889_114890delinsTG , LRG_135:g.114889_114890delinsTG
NG_054724.1:g.142112_142113delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7789-42_7789-41delinsTG (ATM) ENSP00000388058.2:n.7789-42_7789-41delinsTG
ENST00000713593.1:c.*7260-42_*7260-41delinsTG (ATM) ENSP00000518889.1:n.*7260-42_*7260-41delinsTG
ENST00000278616.9:c.7789-42_7789-41delinsTG (ATM) ENSP00000278616.4:n.7789-42_7789-41delinsTG
ENST00000525056.2:n.2208-42_2208-41delinsTG (ATM)
ENST00000525537.3:n.1428_1429delinsTG (ATM)
ENST00000638786.2:n.625+683_625+684delinsTG (ATM)
ENST00000682286.1:n.2546-42_2546-41delinsTG (ATM)
ENST00000682302.1:n.2207-42_2207-41delinsTG (ATM)
ENST00000683174.1:n.9273-42_9273-41delinsTG (ATM)
ENST00000683524.1:n.3013-42_3013-41delinsTG (ATM)
ENST00000684152.1:n.3343+1163_3344-1165delinsTG (ATM)
ENST00000684180.1:n.221_222delinsTG (ATM)
ENST00000684447.1:n.3255_3256delinsTG (ATM)
ENST00000527805.6:c.*2853-42_*2853-41delinsTG (ATM) ENSP00000435747.2:n.*2853-42_*2853-41delinsTG
ENST00000675595.1:c.*2924-42_*2924-41delinsTG (ATM) ENSP00000502563.1:n.*2924-42_*2924-41delinsTG
ENST00000675843.1:c.7789-42_7789-41delinsTG (ATM) MANE Select ENSP00000501606.1:n.7789-42_7789-41delinsTG
ENST00000278616.8:c.7789-42_7789-41delinsTG (ATM) ENSP00000278616.4:n.7789-42_7789-41delinsTG
ENST00000452508.6:c.7789-42_7789-41delinsTG (ATM) ENSP00000388058.2:n.7789-42_7789-41delinsTG
ENST00000524755.5:c.300-1154_300-1153delinsCA (C11orf65)
ENST00000524792.5:n.4004-42_4004-41delinsTG (ATM)
ENST00000525729.5:c.641-23650_641-23649delinsCA (C11orf65) ENSP00000433395.1:n.641-23650_641-23649delinsCA
ENST00000527531.5:c.*1270-1154_*1270-1153delinsCA (C11orf65) ENSP00000431706.1:n.*1270-1154_*1270-1153delinsCA
ENST00000533690.5:n.3193-42_3193-41delinsTG (ATM)
ENST00000615746.4:c.*1270-1154_*1270-1153delinsCA (C11orf65) ENSP00000483537.1:n.*1270-1154_*1270-1153delinsCA
NM_000051.3:c.7789-42_7789-41delinsTG , LRG_135t1:c.7789-42_7789-41delinsTG (ATM) NP_000042.3:n.7789-42_7789-41delinsTG
XM_005271414.3:c.*39-1154_*39-1153delinsCA (C11orf65) XP_005271471.1:n.*39-1154_*39-1153delinsCA
XM_005271415.3:c.805-1154_805-1153delinsCA (C11orf65) XP_005271472.1:n.805-1154_805-1153delinsCA
XM_005271561.3:c.7789-42_7789-41delinsTG (ATM) XP_005271618.2:n.7789-42_7789-41delinsTG
XM_005271562.3:c.7789-42_7789-41delinsTG (ATM) XP_005271619.2:n.7789-42_7789-41delinsTG
XM_006718843.2:c.7789-42_7789-41delinsTG (ATM) XP_006718906.1:n.7789-42_7789-41delinsTG
XM_006718845.1:c.3745-42_3745-41delinsTG (ATM) XP_006718908.1:n.3745-42_3745-41delinsTG
XM_011542840.1:c.7789-42_7789-41delinsTG (ATM) XP_011541142.1:n.7789-42_7789-41delinsTG
XM_011542841.1:c.7789-42_7789-41delinsTG (ATM) XP_011541143.1:n.7789-42_7789-41delinsTG
XM_011542842.1:c.7624-42_7624-41delinsTG (ATM) XP_011541144.1:n.7624-42_7624-41delinsTG
XM_011542843.1:c.7789-42_7789-41delinsTG (ATM) XP_011541145.1:n.7789-42_7789-41delinsTG
XM_011542844.1:c.6745-42_6745-41delinsTG (ATM) XP_011541146.1:n.6745-42_6745-41delinsTG
XM_011542845.1:c.6481-42_6481-41delinsTG (ATM) XP_011541147.1:n.6481-42_6481-41delinsTG
XM_011542847.1:c.2860-42_2860-41delinsTG (ATM) XP_011541149.1:n.2860-42_2860-41delinsTG
NM_001330368.1:c.641-23650_641-23649delinsCA (C11orf65) NP_001317297.1:n.641-23650_641-23649delinsCA
NM_001351110.1:c.*38+2499_*38+2500delinsCA (C11orf65) NP_001338039.1:n.*38+2499_*38+2500delinsCA
NM_001351834.1:c.7789-42_7789-41delinsTG (ATM) NP_001338763.1:n.7789-42_7789-41delinsTG
NR_147053.2:n.2375-1154_2375-1153delinsCA (C11orf65)
XM_005271414.4:c.*39-1154_*39-1153delinsCA (C11orf65) XP_005271471.1:n.*39-1154_*39-1153delinsCA
XM_005271415.4:c.805-1154_805-1153delinsCA (C11orf65) XP_005271472.1:n.805-1154_805-1153delinsCA
XM_005271562.5:c.7789-42_7789-41delinsTG (ATM) XP_005271619.2:n.7789-42_7789-41delinsTG
XM_006718843.4:c.7789-42_7789-41delinsTG (ATM) XP_006718906.1:n.7789-42_7789-41delinsTG
XM_006718845.2:c.3745-42_3745-41delinsTG (ATM) XP_006718908.1:n.3745-42_3745-41delinsTG
XM_011542840.3:c.7789-42_7789-41delinsTG (ATM) XP_011541142.1:n.7789-42_7789-41delinsTG
XM_011542842.3:c.7624-42_7624-41delinsTG (ATM) XP_011541144.1:n.7624-42_7624-41delinsTG
XM_011542843.2:c.7789-42_7789-41delinsTG (ATM) XP_011541145.1:n.7789-42_7789-41delinsTG
XM_011542844.3:c.6745-42_6745-41delinsTG (ATM) XP_011541146.1:n.6745-42_6745-41delinsTG
XM_011542845.2:c.6481-42_6481-41delinsTG (ATM) XP_011541147.1:n.6481-42_6481-41delinsTG
XM_017017789.2:c.7789-42_7789-41delinsTG (ATM) XP_016873278.1:n.7789-42_7789-41delinsTG
XM_017017790.2:c.7789-42_7789-41delinsTG (ATM) XP_016873279.1:n.7789-42_7789-41delinsTG
NM_001330368.2:c.641-23650_641-23649delinsCA (C11orf65) NP_001317297.1:n.641-23650_641-23649delinsCA
NM_001351110.2:c.*38+2499_*38+2500delinsCA (C11orf65) NP_001338039.1:n.*38+2499_*38+2500delinsCA
NM_001351834.2:c.7789-42_7789-41delinsTG (ATM) NP_001338763.1:n.7789-42_7789-41delinsTG
NM_000051.4:c.7789-42_7789-41delinsTG (ATM) MANE Select NP_000042.3:n.7789-42_7789-41delinsTG
NR_147053.3:n.2373-1154_2373-1153delinsCA (C11orf65)