Canonical Allele Identifier: CA10584354
Community Standard Title: NM_000051.4(ATM):c.6006+4_6006+5del
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108312502_108312503del , CM000673.2:g.108312502_108312503del GRCh38
NC_000011.9:g.108183229_108183230del , CM000673.1:g.108183229_108183230del GRCh37
NC_000011.8:g.107688439_107688440del NCBI36
NG_009830.1:g.94671_94672del , LRG_135:g.94671_94672del
NG_054724.1:g.162331_162332del

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.6006+4_6006+5del (ATM) MANE Select NP_000042.3:n.6006+4_6006+5del
ENST00000675843.1:c.6006+4_6006+5del (ATM) MANE Select ENSP00000501606.1:n.6006+4_6006+5del
NM_000051.3:c.6006+4_6006+5del , LRG_135t1:c.6006+4_6006+5del (ATM) NP_000042.3:n.6006+4_6006+5del
NM_001330368.1:c.641-3431_641-3430del (C11orf65) NP_001317297.1:n.641-3431_641-3430del
NM_001330368.2:c.641-3431_641-3430del (C11orf65) NP_001317297.1:n.641-3431_641-3430del
NM_001351110.1:c.*39-3431_*39-3430del (C11orf65) NP_001338039.1:n.*39-3431_*39-3430del
NM_001351110.2:c.*39-3431_*39-3430del (C11orf65) NP_001338039.1:n.*39-3431_*39-3430del
NM_001351834.1:c.6006+4_6006+5del (ATM) NP_001338763.1:n.6006+4_6006+5del
NM_001351834.2:c.6006+4_6006+5del (ATM) NP_001338763.1:n.6006+4_6006+5del
ENST00000278616.8:c.6006+4_6006+5del (ATM) ENSP00000278616.4:n.6006+4_6006+5del
ENST00000278616.9:c.6006+4_6006+5del (ATM) ENSP00000278616.4:n.6006+4_6006+5del
ENST00000452508.6:c.6006+4_6006+5del (ATM) ENSP00000388058.2:n.6006+4_6006+5del
ENST00000452508.7:c.6006+4_6006+5del (ATM) ENSP00000388058.2:n.6006+4_6006+5del
ENST00000524792.5:n.2221+4_2221+5del (ATM)
ENST00000525056.2:n.425+4_425+5del (ATM)
ENST00000525729.5:c.641-3431_641-3430del (C11orf65) ENSP00000433395.1:n.641-3431_641-3430del
ENST00000527805.6:c.*1070+4_*1070+5del (ATM) ENSP00000435747.2:n.*1070+4_*1070+5del
ENST00000529588.5:c.430+4_430+5del (ATM)
ENST00000532765.1:n.323+4_323+5del (ATM)
ENST00000533690.5:n.1410+4_1410+5del (ATM)
ENST00000675595.1:c.*1070+4_*1070+5del (ATM) ENSP00000502563.1:n.*1070+4_*1070+5del
ENST00000682286.1:n.763+4_763+5del (ATM)
ENST00000682302.1:n.424+4_424+5del (ATM)
ENST00000683174.1:n.7490+4_7490+5del (ATM)
ENST00000683524.1:n.1230+4_1230+5del (ATM)
ENST00000684152.1:n.1720+4_1720+5del (ATM)
ENST00000713593.1:c.*5477+4_*5477+5del (ATM) ENSP00000518889.1:n.*5477+4_*5477+5del
XM_005271561.3:c.6006+4_6006+5del (ATM) XP_005271618.2:n.6006+4_6006+5del
XM_005271562.3:c.6006+4_6006+5del (ATM) XP_005271619.2:n.6006+4_6006+5del
XM_005271562.5:c.6006+4_6006+5del (ATM) XP_005271619.2:n.6006+4_6006+5del
XM_006718843.2:c.6006+4_6006+5del (ATM) XP_006718906.1:n.6006+4_6006+5del
XM_006718843.4:c.6006+4_6006+5del (ATM) XP_006718906.1:n.6006+4_6006+5del
XM_006718845.1:c.1962+4_1962+5del (ATM) XP_006718908.1:n.1962+4_1962+5del
XM_006718845.2:c.1962+4_1962+5del (ATM) XP_006718908.1:n.1962+4_1962+5del
XM_011542840.1:c.6006+4_6006+5del (ATM) XP_011541142.1:n.6006+4_6006+5del
XM_011542840.3:c.6006+4_6006+5del (ATM) XP_011541142.1:n.6006+4_6006+5del
XM_011542841.1:c.6006+4_6006+5del (ATM) XP_011541143.1:n.6006+4_6006+5del
XM_011542842.1:c.5841+4_5841+5del (ATM) XP_011541144.1:n.5841+4_5841+5del
XM_011542842.3:c.5841+4_5841+5del (ATM) XP_011541144.1:n.5841+4_5841+5del
XM_011542843.1:c.6006+4_6006+5del (ATM) XP_011541145.1:n.6006+4_6006+5del
XM_011542843.2:c.6006+4_6006+5del (ATM) XP_011541145.1:n.6006+4_6006+5del
XM_011542844.1:c.4962+4_4962+5del (ATM) XP_011541146.1:n.4962+4_4962+5del
XM_011542844.3:c.4962+4_4962+5del (ATM) XP_011541146.1:n.4962+4_4962+5del
XM_011542845.1:c.4698+4_4698+5del (ATM) XP_011541147.1:n.4698+4_4698+5del
XM_011542845.2:c.4698+4_4698+5del (ATM) XP_011541147.1:n.4698+4_4698+5del
XM_011542847.1:c.1077+4_1077+5del (ATM) XP_011541149.1:n.1077+4_1077+5del
XM_017017789.2:c.6006+4_6006+5del (ATM) XP_016873278.1:n.6006+4_6006+5del
XM_017017790.2:c.6006+4_6006+5del (ATM) XP_016873279.1:n.6006+4_6006+5del
XM_017017791.1:c.6006+4_6006+5del (ATM) XP_016873280.1:n.6006+4_6006+5del