Canonical Allele Identifier: CA1998806163
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs2085224658

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108321538_108321541del , CM000673.2:g.108321538_108321541del GRCh38
NC_000011.9:g.108192265_108192268del , CM000673.1:g.108192265_108192268del GRCh37
NC_000011.8:g.107697475_107697478del NCBI36
NG_009830.1:g.103707_103710del , LRG_135:g.103707_103710del
NG_054724.1:g.153292_153295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6572+118_6572+121del (ATM) ENSP00000388058.2:n.6572+118_6572+121del
ENST00000713593.1:c.*6043+118_*6043+121del (ATM) ENSP00000518889.1:n.*6043+118_*6043+121del
ENST00000278616.9:c.6572+118_6572+121del (ATM) ENSP00000278616.4:n.6572+118_6572+121del
ENST00000525056.2:n.991+118_991+121del (ATM)
ENST00000682286.1:n.1329+118_1329+121del (ATM)
ENST00000682302.1:n.990+118_990+121del (ATM)
ENST00000683174.1:n.8056+118_8056+121del (ATM)
ENST00000683524.1:n.1796+118_1796+121del (ATM)
ENST00000684152.1:n.2286+118_2286+121del (ATM)
ENST00000527805.6:c.*1636+118_*1636+121del (ATM) ENSP00000435747.2:n.*1636+118_*1636+121del
ENST00000675595.1:c.*1707+118_*1707+121del (ATM) ENSP00000502563.1:n.*1707+118_*1707+121del
ENST00000675843.1:c.6572+118_6572+121del (ATM) MANE Select ENSP00000501606.1:n.6572+118_6572+121del
ENST00000278616.8:c.6572+118_6572+121del (ATM) ENSP00000278616.4:n.6572+118_6572+121del
ENST00000452508.6:c.6572+118_6572+121del (ATM) ENSP00000388058.2:n.6572+118_6572+121del
ENST00000524792.5:n.2787+118_2787+121del (ATM)
ENST00000525729.5:c.641-12470_641-12467del (C11orf65) ENSP00000433395.1:n.641-12470_641-12467del
ENST00000533690.5:n.1976+118_1976+121del (ATM)
NM_000051.3:c.6572+118_6572+121del , LRG_135t1:c.6572+118_6572+121del (ATM) NP_000042.3:n.6572+118_6572+121del
XM_005271561.3:c.6572+118_6572+121del (ATM) XP_005271618.2:n.6572+118_6572+121del
XM_005271562.3:c.6572+118_6572+121del (ATM) XP_005271619.2:n.6572+118_6572+121del
XM_006718843.2:c.6572+118_6572+121del (ATM) XP_006718906.1:n.6572+118_6572+121del
XM_006718845.1:c.2528+118_2528+121del (ATM) XP_006718908.1:n.2528+118_2528+121del
XM_011542840.1:c.6572+118_6572+121del (ATM) XP_011541142.1:n.6572+118_6572+121del
XM_011542841.1:c.6572+118_6572+121del (ATM) XP_011541143.1:n.6572+118_6572+121del
XM_011542842.1:c.6407+118_6407+121del (ATM) XP_011541144.1:n.6407+118_6407+121del
XM_011542843.1:c.6572+118_6572+121del (ATM) XP_011541145.1:n.6572+118_6572+121del
XM_011542844.1:c.5528+118_5528+121del (ATM) XP_011541146.1:n.5528+118_5528+121del
XM_011542845.1:c.5264+118_5264+121del (ATM) XP_011541147.1:n.5264+118_5264+121del
XM_011542847.1:c.1643+118_1643+121del (ATM) XP_011541149.1:n.1643+118_1643+121del
NM_001330368.1:c.641-12470_641-12467del (C11orf65) NP_001317297.1:n.641-12470_641-12467del
NM_001351110.1:c.*39-12470_*39-12467del (C11orf65) NP_001338039.1:n.*39-12470_*39-12467del
NM_001351834.1:c.6572+118_6572+121del (ATM) NP_001338763.1:n.6572+118_6572+121del
XM_005271562.5:c.6572+118_6572+121del (ATM) XP_005271619.2:n.6572+118_6572+121del
XM_006718843.4:c.6572+118_6572+121del (ATM) XP_006718906.1:n.6572+118_6572+121del
XM_006718845.2:c.2528+118_2528+121del (ATM) XP_006718908.1:n.2528+118_2528+121del
XM_011542840.3:c.6572+118_6572+121del (ATM) XP_011541142.1:n.6572+118_6572+121del
XM_011542842.3:c.6407+118_6407+121del (ATM) XP_011541144.1:n.6407+118_6407+121del
XM_011542843.2:c.6572+118_6572+121del (ATM) XP_011541145.1:n.6572+118_6572+121del
XM_011542844.3:c.5528+118_5528+121del (ATM) XP_011541146.1:n.5528+118_5528+121del
XM_011542845.2:c.5264+118_5264+121del (ATM) XP_011541147.1:n.5264+118_5264+121del
XM_017017789.2:c.6572+118_6572+121del (ATM) XP_016873278.1:n.6572+118_6572+121del
XM_017017790.2:c.6572+118_6572+121del (ATM) XP_016873279.1:n.6572+118_6572+121del
NM_001330368.2:c.641-12470_641-12467del (C11orf65) NP_001317297.1:n.641-12470_641-12467del
NM_001351110.2:c.*39-12470_*39-12467del (C11orf65) NP_001338039.1:n.*39-12470_*39-12467del
NM_001351834.2:c.6572+118_6572+121del (ATM) NP_001338763.1:n.6572+118_6572+121del
NM_000051.4:c.6572+118_6572+121del (ATM) MANE Select NP_000042.3:n.6572+118_6572+121del