Canonical Allele Identifier: CA2514628290
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108309257_108309265del , CM000673.2:g.108309257_108309265del GRCh38
NC_000011.9:g.108179984_108179992del , CM000673.1:g.108179984_108179992del GRCh37
NC_000011.8:g.107685194_107685202del NCBI36
NG_009830.1:g.91426_91434del , LRG_135:g.91426_91434del
NG_054724.1:g.165569_165577del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5763-903_5763-895del (ATM) ENSP00000388058.2:n.5763-903_5763-895del
ENST00000713593.1:c.*5234-903_*5234-895del (ATM) ENSP00000518889.1:n.*5234-903_*5234-895del
ENST00000278616.9:c.5763-903_5763-895del (ATM) ENSP00000278616.4:n.5763-903_5763-895del
ENST00000525056.2:n.182-903_182-895del (ATM)
ENST00000682286.1:n.520-903_520-895del (ATM)
ENST00000682302.1:n.181-903_181-895del (ATM)
ENST00000683174.1:n.7247-903_7247-895del (ATM)
ENST00000683524.1:n.987-903_987-895del (ATM)
ENST00000684152.1:n.1477-903_1477-895del (ATM)
ENST00000527805.6:c.*827-903_*827-895del (ATM) ENSP00000435747.2:n.*827-903_*827-895del
ENST00000675595.1:c.*827-903_*827-895del (ATM) ENSP00000502563.1:n.*827-903_*827-895del
ENST00000675843.1:c.5763-903_5763-895del (ATM) MANE Select ENSP00000501606.1:n.5763-903_5763-895del
ENST00000278616.8:c.5763-903_5763-895del (ATM) ENSP00000278616.4:n.5763-903_5763-895del
ENST00000452508.6:c.5763-903_5763-895del (ATM) ENSP00000388058.2:n.5763-903_5763-895del
ENST00000524792.5:n.1978-903_1978-895del (ATM)
ENST00000525729.5:c.641-193_641-185del (C11orf65) ENSP00000433395.1:n.641-193_641-185del
ENST00000529588.5:c.187-903_187-895del (ATM)
ENST00000532765.1:n.80-903_80-895del (ATM)
ENST00000533690.5:n.1167-903_1167-895del (ATM)
NM_000051.3:c.5763-903_5763-895del , LRG_135t1:c.5763-903_5763-895del (ATM) NP_000042.3:n.5763-903_5763-895del
XM_005271561.3:c.5763-903_5763-895del (ATM) XP_005271618.2:n.5763-903_5763-895del
XM_005271562.3:c.5763-903_5763-895del (ATM) XP_005271619.2:n.5763-903_5763-895del
XM_006718843.2:c.5763-903_5763-895del (ATM) XP_006718906.1:n.5763-903_5763-895del
XM_006718845.1:c.1719-903_1719-895del (ATM) XP_006718908.1:n.1719-903_1719-895del
XM_011542840.1:c.5763-903_5763-895del (ATM) XP_011541142.1:n.5763-903_5763-895del
XM_011542841.1:c.5763-903_5763-895del (ATM) XP_011541143.1:n.5763-903_5763-895del
XM_011542842.1:c.5598-903_5598-895del (ATM) XP_011541144.1:n.5598-903_5598-895del
XM_011542843.1:c.5763-903_5763-895del (ATM) XP_011541145.1:n.5763-903_5763-895del
XM_011542844.1:c.4719-903_4719-895del (ATM) XP_011541146.1:n.4719-903_4719-895del
XM_011542845.1:c.4455-903_4455-895del (ATM) XP_011541147.1:n.4455-903_4455-895del
XM_011542847.1:c.834-903_834-895del (ATM) XP_011541149.1:n.834-903_834-895del
NM_001330368.1:c.641-193_641-185del (C11orf65) NP_001317297.1:n.641-193_641-185del
NM_001351110.1:c.*39-193_*39-185del (C11orf65) NP_001338039.1:n.*39-193_*39-185del
NM_001351834.1:c.5763-903_5763-895del (ATM) NP_001338763.1:n.5763-903_5763-895del
XM_005271562.5:c.5763-903_5763-895del (ATM) XP_005271619.2:n.5763-903_5763-895del
XM_006718843.4:c.5763-903_5763-895del (ATM) XP_006718906.1:n.5763-903_5763-895del
XM_006718845.2:c.1719-903_1719-895del (ATM) XP_006718908.1:n.1719-903_1719-895del
XM_011542840.3:c.5763-903_5763-895del (ATM) XP_011541142.1:n.5763-903_5763-895del
XM_011542842.3:c.5598-903_5598-895del (ATM) XP_011541144.1:n.5598-903_5598-895del
XM_011542843.2:c.5763-903_5763-895del (ATM) XP_011541145.1:n.5763-903_5763-895del
XM_011542844.3:c.4719-903_4719-895del (ATM) XP_011541146.1:n.4719-903_4719-895del
XM_011542845.2:c.4455-903_4455-895del (ATM) XP_011541147.1:n.4455-903_4455-895del
XM_017017789.2:c.5763-903_5763-895del (ATM) XP_016873278.1:n.5763-903_5763-895del
XM_017017790.2:c.5763-903_5763-895del (ATM) XP_016873279.1:n.5763-903_5763-895del
XM_017017791.1:c.5763-903_5763-895del (ATM) XP_016873280.1:n.5763-903_5763-895del
XR_002957150.1:n.6363-903_6363-895del (ATM)
NM_001330368.2:c.641-193_641-185del (C11orf65) NP_001317297.1:n.641-193_641-185del
NM_001351110.2:c.*39-193_*39-185del (C11orf65) NP_001338039.1:n.*39-193_*39-185del
NM_001351834.2:c.5763-903_5763-895del (ATM) NP_001338763.1:n.5763-903_5763-895del
NM_000051.4:c.5763-903_5763-895del (ATM) MANE Select NP_000042.3:n.5763-903_5763-895del