Canonical Allele Identifier: CA1998806130
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108321490_108321501delinsTAAAAACTATAG , CM000673.2:g.108321490_108321501delinsTAAAAACTATAG GRCh38
NC_000011.9:g.108192217_108192228delinsTAAAAACTATAG , CM000673.1:g.108192217_108192228delinsTAAAAACTATAG GRCh37
NC_000011.8:g.107697427_107697438delinsTAAAAACTATAG NCBI36
NG_009830.1:g.103659_103670delinsTAAAAACTATAG , LRG_135:g.103659_103670delinsTAAAAACTATAG
NG_054724.1:g.153332_153343delinsCTATAGTTTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) ENSP00000388058.2:n.6572+70_6572+81delinsTAAAAACTATAG
ENST00000713593.1:c.*6043+70_*6043+81delinsTAAAAACTATAG (ATM) ENSP00000518889.1:n.*6043+70_*6043+81delinsTAAAAACTATAG
ENST00000278616.9:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) ENSP00000278616.4:n.6572+70_6572+81delinsTAAAAACTATAG
ENST00000525056.2:n.991+70_991+81delinsTAAAAACTATAG (ATM)
ENST00000682286.1:n.1329+70_1329+81delinsTAAAAACTATAG (ATM)
ENST00000682302.1:n.990+70_990+81delinsTAAAAACTATAG (ATM)
ENST00000683174.1:n.8056+70_8056+81delinsTAAAAACTATAG (ATM)
ENST00000683524.1:n.1796+70_1796+81delinsTAAAAACTATAG (ATM)
ENST00000684152.1:n.2286+70_2286+81delinsTAAAAACTATAG (ATM)
ENST00000527805.6:c.*1636+70_*1636+81delinsTAAAAACTATAG (ATM) ENSP00000435747.2:n.*1636+70_*1636+81delinsTAAAAACTATAG
ENST00000675595.1:c.*1707+70_*1707+81delinsTAAAAACTATAG (ATM) ENSP00000502563.1:n.*1707+70_*1707+81delinsTAAAAACTATAG
ENST00000675843.1:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) MANE Select ENSP00000501606.1:n.6572+70_6572+81delinsTAAAAACTATAG
ENST00000278616.8:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) ENSP00000278616.4:n.6572+70_6572+81delinsTAAAAACTATAG
ENST00000452508.6:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) ENSP00000388058.2:n.6572+70_6572+81delinsTAAAAACTATAG
ENST00000524792.5:n.2787+70_2787+81delinsTAAAAACTATAG (ATM)
ENST00000525729.5:c.641-12430_641-12419delinsCTATAGTTTTTA (C11orf65) ENSP00000433395.1:n.641-12430_641-12419delinsCTATAGTTTTTA
ENST00000533690.5:n.1976+70_1976+81delinsTAAAAACTATAG (ATM)
NM_000051.3:c.6572+70_6572+81delinsTAAAAACTATAG , LRG_135t1:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) NP_000042.3:n.6572+70_6572+81delinsTAAAAACTATAG
XM_005271561.3:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_005271618.2:n.6572+70_6572+81delinsTAAAAACTATAG
XM_005271562.3:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_005271619.2:n.6572+70_6572+81delinsTAAAAACTATAG
XM_006718843.2:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_006718906.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_006718845.1:c.2528+70_2528+81delinsTAAAAACTATAG (ATM) XP_006718908.1:n.2528+70_2528+81delinsTAAAAACTATAG
XM_011542840.1:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_011541142.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_011542841.1:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_011541143.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_011542842.1:c.6407+70_6407+81delinsTAAAAACTATAG (ATM) XP_011541144.1:n.6407+70_6407+81delinsTAAAAACTATAG
XM_011542843.1:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_011541145.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_011542844.1:c.5528+70_5528+81delinsTAAAAACTATAG (ATM) XP_011541146.1:n.5528+70_5528+81delinsTAAAAACTATAG
XM_011542845.1:c.5264+70_5264+81delinsTAAAAACTATAG (ATM) XP_011541147.1:n.5264+70_5264+81delinsTAAAAACTATAG
XM_011542847.1:c.1643+70_1643+81delinsTAAAAACTATAG (ATM) XP_011541149.1:n.1643+70_1643+81delinsTAAAAACTATAG
NM_001330368.1:c.641-12430_641-12419delinsCTATAGTTTTTA (C11orf65) NP_001317297.1:n.641-12430_641-12419delinsCTATAGTTTTTA
NM_001351110.1:c.*39-12430_*39-12419delinsCTATAGTTTTTA (C11orf65) NP_001338039.1:n.*39-12430_*39-12419delinsCTATAGTTTTTA
NM_001351834.1:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) NP_001338763.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_005271562.5:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_005271619.2:n.6572+70_6572+81delinsTAAAAACTATAG
XM_006718843.4:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_006718906.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_006718845.2:c.2528+70_2528+81delinsTAAAAACTATAG (ATM) XP_006718908.1:n.2528+70_2528+81delinsTAAAAACTATAG
XM_011542840.3:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_011541142.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_011542842.3:c.6407+70_6407+81delinsTAAAAACTATAG (ATM) XP_011541144.1:n.6407+70_6407+81delinsTAAAAACTATAG
XM_011542843.2:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_011541145.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_011542844.3:c.5528+70_5528+81delinsTAAAAACTATAG (ATM) XP_011541146.1:n.5528+70_5528+81delinsTAAAAACTATAG
XM_011542845.2:c.5264+70_5264+81delinsTAAAAACTATAG (ATM) XP_011541147.1:n.5264+70_5264+81delinsTAAAAACTATAG
XM_017017789.2:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_016873278.1:n.6572+70_6572+81delinsTAAAAACTATAG
XM_017017790.2:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) XP_016873279.1:n.6572+70_6572+81delinsTAAAAACTATAG
NM_001330368.2:c.641-12430_641-12419delinsCTATAGTTTTTA (C11orf65) NP_001317297.1:n.641-12430_641-12419delinsCTATAGTTTTTA
NM_001351110.2:c.*39-12430_*39-12419delinsCTATAGTTTTTA (C11orf65) NP_001338039.1:n.*39-12430_*39-12419delinsCTATAGTTTTTA
NM_001351834.2:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) NP_001338763.1:n.6572+70_6572+81delinsTAAAAACTATAG
NM_000051.4:c.6572+70_6572+81delinsTAAAAACTATAG (ATM) MANE Select NP_000042.3:n.6572+70_6572+81delinsTAAAAACTATAG