Canonical Allele Identifier: CA16619207
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 419877
ClinVar RCV Id: RCV000478583
dbSNP Id: rs1064794166

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108315875del , CM000673.2:g.108315875del GRCh38
NC_000011.9:g.108186602del , CM000673.1:g.108186602del GRCh37
NC_000011.8:g.107691812del NCBI36
NG_009830.1:g.98044del , LRG_135:g.98044del
NG_054724.1:g.158959del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.6059del (ATM) ENSP00000388058.2:p.Gly2020AlafsTer27
ENST00000713593.1:c.*5530del (ATM) ENSP00000518889.1:n.*5530del
ENST00000278616.9:c.6059del (ATM) ENSP00000278616.4:p.Gly2020AlafsTer27
ENST00000525056.2:n.478del (ATM)
ENST00000682286.1:n.816del (ATM)
ENST00000682302.1:n.477del (ATM)
ENST00000683174.1:n.7543del (ATM)
ENST00000683524.1:n.1283del (ATM)
ENST00000684152.1:n.1773del (ATM)
ENST00000527805.6:c.*1123del (ATM) ENSP00000435747.2:n.*1123del
ENST00000675595.1:c.*1123del (ATM) ENSP00000502563.1:n.*1123del
ENST00000675843.1:c.6059del (ATM) MANE Select ENSP00000501606.1:p.Gly2020AlafsTer27
ENST00000278616.8:c.6059del (ATM) ENSP00000278616.4:p.Gly2020AlafsTer27
ENST00000452508.6:c.6059del (ATM) ENSP00000388058.2:p.Gly2020AlafsTer27
ENST00000524792.5:n.2274del (ATM)
ENST00000525729.5:c.641-6803del (C11orf65) ENSP00000433395.1:n.641-6803del
ENST00000529588.5:c.483del (ATM)
ENST00000532765.1:n.376del (ATM)
ENST00000533690.5:n.1463del (ATM)
NM_000051.3:c.6059del , LRG_135t1:c.6059del (ATM) NP_000042.3:p.Gly2020AlafsTer27
XM_005271561.3:c.6059del (ATM) XP_005271618.2:p.Gly2020AlafsTer27
XM_005271562.3:c.6059del (ATM) XP_005271619.2:p.Gly2020AlafsTer27
XM_006718843.2:c.6059del (ATM) XP_006718906.1:p.Gly2020AlafsTer27
XM_006718845.1:c.2015del (ATM) XP_006718908.1:p.Gly672AlafsTer27
XM_011542840.1:c.6059del (ATM) XP_011541142.1:p.Gly2020AlafsTer27
XM_011542841.1:c.6059del (ATM) XP_011541143.1:p.Gly2020AlafsTer27
XM_011542842.1:c.5894del (ATM) XP_011541144.1:p.Gly1965AlafsTer27
XM_011542843.1:c.6059del (ATM) XP_011541145.1:p.Gly2020AlafsTer27
XM_011542844.1:c.5015del (ATM) XP_011541146.1:p.Gly1672AlafsTer27
XM_011542845.1:c.4751del (ATM) XP_011541147.1:p.Gly1584AlafsTer27
XM_011542847.1:c.1130del (ATM) XP_011541149.1:p.Gly377AlafsTer27
NM_001330368.1:c.641-6803del (C11orf65) NP_001317297.1:n.641-6803del
NM_001351110.1:c.*39-6803del (C11orf65) NP_001338039.1:n.*39-6803del
NM_001351834.1:c.6059del (ATM) NP_001338763.1:p.Gly2020AlafsTer27
XM_005271562.5:c.6059del (ATM) XP_005271619.2:p.Gly2020AlafsTer27
XM_006718843.4:c.6059del (ATM) XP_006718906.1:p.Gly2020AlafsTer27
XM_006718845.2:c.2015del (ATM) XP_006718908.1:p.Gly672AlafsTer27
XM_011542840.3:c.6059del (ATM) XP_011541142.1:p.Gly2020AlafsTer27
XM_011542842.3:c.5894del (ATM) XP_011541144.1:p.Gly1965AlafsTer27
XM_011542843.2:c.6059del (ATM) XP_011541145.1:p.Gly2020AlafsTer27
XM_011542844.3:c.5015del (ATM) XP_011541146.1:p.Gly1672AlafsTer27
XM_011542845.2:c.4751del (ATM) XP_011541147.1:p.Gly1584AlafsTer27
XM_017017789.2:c.6059del (ATM) XP_016873278.1:p.Gly2020AlafsTer27
XM_017017790.2:c.6059del (ATM) XP_016873279.1:p.Gly2020AlafsTer27
XM_017017791.1:c.6059del (ATM) XP_016873280.1:p.Gly2020AlafsTer27
NM_001330368.2:c.641-6803del (C11orf65) NP_001317297.1:n.641-6803del
NM_001351110.2:c.*39-6803del (C11orf65) NP_001338039.1:n.*39-6803del
NM_001351834.2:c.6059del (ATM) NP_001338763.1:p.Gly2020AlafsTer27
NM_000051.4:c.6059del (ATM) MANE Select NP_000042.3:p.Gly2020AlafsTer27