Canonical Allele Identifier: CA1998811791
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108333860_108333861delinsTA , CM000673.2:g.108333860_108333861delinsTA GRCh38
NC_000011.9:g.108204587_108204588delinsTA , CM000673.1:g.108204587_108204588delinsTA GRCh37
NC_000011.8:g.107709797_107709798delinsTA NCBI36
NG_009830.1:g.116029_116030delinsTA , LRG_135:g.116029_116030delinsTA
NG_054724.1:g.140972_140973delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.7928-26_7928-25delinsTA (ATM) ENSP00000388058.2:n.7928-26_7928-25delins...
ENST00000713593.1:c.*7399-26_*7399-25delinsTA (ATM) ENSP00000518889.1:n.*7399-26_*7399-25deli...
ENST00000278616.9:c.7928-26_7928-25delinsTA (ATM) ENSP00000278616.4:n.7928-26_7928-25delins...
ENST00000525056.2:n.2347-26_2347-25delinsTA (ATM)
ENST00000638786.2:n.626-26_626-25delinsTA (ATM)
ENST00000682286.1:n.2685-26_2685-25delinsTA (ATM)
ENST00000682302.1:n.2346-26_2346-25delinsTA (ATM)
ENST00000683174.1:n.9412-26_9412-25delinsTA (ATM)
ENST00000683524.1:n.3152-26_3152-25delinsTA (ATM)
ENST00000684152.1:n.3344-26_3344-25delinsTA (ATM)
ENST00000684180.1:n.402-26_402-25delinsTA (ATM)
ENST00000684447.1:n.4395_4396delinsTA (ATM)
ENST00000527805.6:c.*2992-26_*2992-25delinsTA (ATM) ENSP00000435747.2:n.*2992-26_*2992-25deli...
ENST00000675595.1:c.*3063-26_*3063-25delinsTA (ATM) ENSP00000502563.1:n.*3063-26_*3063-25deli...
ENST00000675843.1:c.7928-26_7928-25delinsTA (ATM) MANE Select ENSP00000501606.1:n.7928-26_7928-25delins...
ENST00000278616.8:c.7928-26_7928-25delinsTA (ATM) ENSP00000278616.4:n.7928-26_7928-25delins...
ENST00000452508.6:c.7928-26_7928-25delinsTA (ATM) ENSP00000388058.2:n.7928-26_7928-25delins...
ENST00000524755.5:c.299+1359_299+1360delinsTA (C11orf65)
ENST00000524792.5:n.4143-26_4143-25delinsTA (ATM)
ENST00000525056.1:n.125-26_125-25delinsTA (ATM)
ENST00000525729.5:c.641-24790_641-24789delinsTA (C11orf65) ENSP00000433395.1:n.641-24790_641-24789de...
ENST00000527531.5:c.*1269+1359_*1269+1360delinsTA (C11orf65) ENSP00000431706.1:n.*1269+1359_*1269+1360...
ENST00000533690.5:n.3332-26_3332-25delinsTA (ATM)
ENST00000533979.5:n.140-26_140-25delinsTA (ATM)
ENST00000615746.4:c.*1269+1359_*1269+1360delinsTA (C11orf65) ENSP00000483537.1:n.*1269+1359_*1269+1360...
NM_000051.3:c.7928-26_7928-25delinsTA , LRG_135t1:c.7928-26_7928-25delinsTA (ATM) NP_000042.3:n.7928-26_7928-25delinsTA
XM_005271414.3:c.*38+1359_*38+1360delinsTA (C11orf65) XP_005271471.1:n.*38+1359_*38+1360delinsT...
XM_005271415.3:c.804+1359_804+1360delinsTA (C11orf65) XP_005271472.1:n.804+1359_804+1360delinsT...
XM_005271561.3:c.7928-26_7928-25delinsTA (ATM) XP_005271618.2:n.7928-26_7928-25delinsTA
XM_005271562.3:c.7928-26_7928-25delinsTA (ATM) XP_005271619.2:n.7928-26_7928-25delinsTA
XM_006718843.2:c.7928-26_7928-25delinsTA (ATM) XP_006718906.1:n.7928-26_7928-25delinsTA
XM_006718845.1:c.3884-26_3884-25delinsTA (ATM) XP_006718908.1:n.3884-26_3884-25delinsTA
XM_011542840.1:c.7928-26_7928-25delinsTA (ATM) XP_011541142.1:n.7928-26_7928-25delinsTA
XM_011542841.1:c.7928-26_7928-25delinsTA (ATM) XP_011541143.1:n.7928-26_7928-25delinsTA
XM_011542842.1:c.7763-26_7763-25delinsTA (ATM) XP_011541144.1:n.7763-26_7763-25delinsTA
XM_011542843.1:c.7928-26_7928-25delinsTA (ATM) XP_011541145.1:n.7928-26_7928-25delinsTA
XM_011542844.1:c.6884-26_6884-25delinsTA (ATM) XP_011541146.1:n.6884-26_6884-25delinsTA
XM_011542845.1:c.6620-26_6620-25delinsTA (ATM) XP_011541147.1:n.6620-26_6620-25delinsTA
XM_011542847.1:c.2999-26_2999-25delinsTA (ATM) XP_011541149.1:n.2999-26_2999-25delinsTA
NM_001330368.1:c.641-24790_641-24789delinsTA (C11orf65) NP_001317297.1:n.641-24790_641-24789delin...
NM_001351110.1:c.*38+1359_*38+1360delinsTA (C11orf65) NP_001338039.1:n.*38+1359_*38+1360delinsT...
NM_001351834.1:c.7928-26_7928-25delinsTA (ATM) NP_001338763.1:n.7928-26_7928-25delinsTA
NR_147053.2:n.2374+1359_2374+1360delinsTA (C11orf65)
XM_005271414.4:c.*38+1359_*38+1360delinsTA (C11orf65) XP_005271471.1:n.*38+1359_*38+1360delinsT...
XM_005271415.4:c.804+1359_804+1360delinsTA (C11orf65) XP_005271472.1:n.804+1359_804+1360delinsT...
XM_005271562.5:c.7928-26_7928-25delinsTA (ATM) XP_005271619.2:n.7928-26_7928-25delinsTA
XM_006718843.4:c.7928-26_7928-25delinsTA (ATM) XP_006718906.1:n.7928-26_7928-25delinsTA
XM_006718845.2:c.3884-26_3884-25delinsTA (ATM) XP_006718908.1:n.3884-26_3884-25delinsTA
XM_011542840.3:c.7928-26_7928-25delinsTA (ATM) XP_011541142.1:n.7928-26_7928-25delinsTA
XM_011542842.3:c.7763-26_7763-25delinsTA (ATM) XP_011541144.1:n.7763-26_7763-25delinsTA
XM_011542843.2:c.7928-26_7928-25delinsTA (ATM) XP_011541145.1:n.7928-26_7928-25delinsTA
XM_011542844.3:c.6884-26_6884-25delinsTA (ATM) XP_011541146.1:n.6884-26_6884-25delinsTA
XM_011542845.2:c.6620-26_6620-25delinsTA (ATM) XP_011541147.1:n.6620-26_6620-25delinsTA
XM_017017789.2:c.7928-26_7928-25delinsTA (ATM) XP_016873278.1:n.7928-26_7928-25delinsTA
XM_017017790.2:c.7928-26_7928-25delinsTA (ATM) XP_016873279.1:n.7928-26_7928-25delinsTA
NM_001330368.2:c.641-24790_641-24789delinsTA (C11orf65) NP_001317297.1:n.641-24790_641-24789delin...
NM_001351110.2:c.*38+1359_*38+1360delinsTA (C11orf65) NP_001338039.1:n.*38+1359_*38+1360delinsT...
NM_001351834.2:c.7928-26_7928-25delinsTA (ATM) NP_001338763.1:n.7928-26_7928-25delinsTA
NM_000051.4:c.7928-26_7928-25delinsTA (ATM) MANE Select NP_000042.3:n.7928-26_7928-25delinsTA
NR_147053.3:n.2372+1359_2372+1360delinsTA (C11orf65)