Canonical Allele Identifier: CA2615863285
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335767_108335778dup , CM000673.2:g.108335767_108335778dup GRCh38
NC_000011.9:g.108206494_108206505dup , CM000673.1:g.108206494_108206505dup GRCh37
NC_000011.8:g.107711704_107711715dup NCBI36
NG_009830.1:g.117936_117947dup , LRG_135:g.117936_117947dup
NG_054724.1:g.139056_139067dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8152-78_8152-67dup (ATM) ENSP00000388058.2:n.8152-78_8152-67dup
ENST00000713593.1:c.*7623-78_*7623-67dup (ATM) ENSP00000518889.1:n.*7623-78_*7623-67dup
ENST00000278616.9:c.8152-78_8152-67dup (ATM) ENSP00000278616.4:n.8152-78_8152-67dup
ENST00000525056.2:n.2571-78_2571-67dup (ATM)
ENST00000638786.2:n.850-78_850-67dup (ATM)
ENST00000682286.1:n.2909-78_2909-67dup (ATM)
ENST00000682302.1:n.2570-78_2570-67dup (ATM)
ENST00000683174.1:n.9636-78_9636-67dup (ATM)
ENST00000683524.1:n.3376-78_3376-67dup (ATM)
ENST00000684152.1:n.3568-78_3568-67dup (ATM)
ENST00000684180.1:n.626-78_626-67dup (ATM)
ENST00000684447.1:n.4645-78_4645-67dup (ATM)
ENST00000527805.6:c.*3216-78_*3216-67dup (ATM) ENSP00000435747.2:n.*3216-78_*3216-67dup
ENST00000675595.1:c.*3287-78_*3287-67dup (ATM) ENSP00000502563.1:n.*3287-78_*3287-67dup
ENST00000675843.1:c.8152-78_8152-67dup (ATM) MANE Select ENSP00000501606.1:n.8152-78_8152-67dup
ENST00000278616.8:c.8152-78_8152-67dup (ATM) ENSP00000278616.4:n.8152-78_8152-67dup
ENST00000452508.6:c.8152-78_8152-67dup (ATM) ENSP00000388058.2:n.8152-78_8152-67dup
ENST00000524755.5:c.227-485_227-474dup (C11orf65)
ENST00000524792.5:n.4367-78_4367-67dup (ATM)
ENST00000525056.1:n.349-78_349-67dup (ATM)
ENST00000525729.5:c.641-26706_641-26695dup (C11orf65) ENSP00000433395.1:n.641-26706_641-26695dup
ENST00000527531.5:c.*1197-485_*1197-474dup (C11orf65) ENSP00000431706.1:n.*1197-485_*1197-474dup
ENST00000533979.5:n.364-78_364-67dup (ATM)
ENST00000615746.4:c.*1197-485_*1197-474dup (C11orf65) ENSP00000483537.1:n.*1197-485_*1197-474dup
NM_000051.3:c.8152-78_8152-67dup , LRG_135t1:c.8152-78_8152-67dup (ATM) NP_000042.3:n.8152-78_8152-67dup
XM_005271414.3:c.788-485_788-474dup (C11orf65) XP_005271471.1:n.788-485_788-474dup
XM_005271415.3:c.732-485_732-474dup (C11orf65) XP_005271472.1:n.732-485_732-474dup
XM_005271561.3:c.8152-78_8152-67dup (ATM) XP_005271618.2:n.8152-78_8152-67dup
XM_005271562.3:c.8152-78_8152-67dup (ATM) XP_005271619.2:n.8152-78_8152-67dup
XM_006718843.2:c.8152-78_8152-67dup (ATM) XP_006718906.1:n.8152-78_8152-67dup
XM_006718845.1:c.4108-78_4108-67dup (ATM) XP_006718908.1:n.4108-78_4108-67dup
XM_011542840.1:c.8152-78_8152-67dup (ATM) XP_011541142.1:n.8152-78_8152-67dup
XM_011542841.1:c.8152-78_8152-67dup (ATM) XP_011541143.1:n.8152-78_8152-67dup
XM_011542842.1:c.7987-78_7987-67dup (ATM) XP_011541144.1:n.7987-78_7987-67dup
XM_011542843.1:c.8152-78_8152-67dup (ATM) XP_011541145.1:n.8152-78_8152-67dup
XM_011542844.1:c.7108-78_7108-67dup (ATM) XP_011541146.1:n.7108-78_7108-67dup
XM_011542845.1:c.6844-78_6844-67dup (ATM) XP_011541147.1:n.6844-78_6844-67dup
XM_011542847.1:c.3223-78_3223-67dup (ATM) XP_011541149.1:n.3223-78_3223-67dup
NM_001330368.1:c.641-26706_641-26695dup (C11orf65) NP_001317297.1:n.641-26706_641-26695dup
NM_001351110.1:c.695-485_695-474dup (C11orf65) NP_001338039.1:n.695-485_695-474dup
NM_001351834.1:c.8152-78_8152-67dup (ATM) NP_001338763.1:n.8152-78_8152-67dup
NR_147053.2:n.2302-485_2302-474dup (C11orf65)
XM_005271414.4:c.788-485_788-474dup (C11orf65) XP_005271471.1:n.788-485_788-474dup
XM_005271415.4:c.732-485_732-474dup (C11orf65) XP_005271472.1:n.732-485_732-474dup
XM_005271562.5:c.8152-78_8152-67dup (ATM) XP_005271619.2:n.8152-78_8152-67dup
XM_006718843.4:c.8152-78_8152-67dup (ATM) XP_006718906.1:n.8152-78_8152-67dup
XM_006718845.2:c.4108-78_4108-67dup (ATM) XP_006718908.1:n.4108-78_4108-67dup
XM_011542840.3:c.8152-78_8152-67dup (ATM) XP_011541142.1:n.8152-78_8152-67dup
XM_011542842.3:c.7987-78_7987-67dup (ATM) XP_011541144.1:n.7987-78_7987-67dup
XM_011542843.2:c.8152-78_8152-67dup (ATM) XP_011541145.1:n.8152-78_8152-67dup
XM_011542844.3:c.7108-78_7108-67dup (ATM) XP_011541146.1:n.7108-78_7108-67dup
XM_011542845.2:c.6844-78_6844-67dup (ATM) XP_011541147.1:n.6844-78_6844-67dup
XM_017017789.2:c.8152-78_8152-67dup (ATM) XP_016873278.1:n.8152-78_8152-67dup
XM_017017790.2:c.8152-78_8152-67dup (ATM) XP_016873279.1:n.8152-78_8152-67dup
NM_001330368.2:c.641-26706_641-26695dup (C11orf65) NP_001317297.1:n.641-26706_641-26695dup
NM_001351110.2:c.695-485_695-474dup (C11orf65) NP_001338039.1:n.695-485_695-474dup
NM_001351834.2:c.8152-78_8152-67dup (ATM) NP_001338763.1:n.8152-78_8152-67dup
NM_000051.4:c.8152-78_8152-67dup (ATM) MANE Select NP_000042.3:n.8152-78_8152-67dup
NR_147053.3:n.2300-485_2300-474dup (C11orf65)
Search 100 bp 5'
Search 100 bp 3'