Canonical Allele Identifier: CA2573053407

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1331733
• ClinVar RCV Id: RCV001804249
• dbSNP Id: rs1555113505

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315823del , CM000673.2:g.108315823del	GRCh38
NC_000011.9:g.108186550del , CM000673.1:g.108186550del	GRCh37
NC_000011.8:g.107691760del	NCBI36
NG_009830.1:g.97992del , LRG_135:g.97992del
NG_054724.1:g.159011del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6007del (ATM)
ENST00000713593.1:c.*5478del (ATM)
ENST00000278616.9:c.6007del (ATM)
ENST00000525056.2:n.426del (ATM)
ENST00000682286.1:n.764del (ATM)
ENST00000682302.1:n.425del (ATM)
ENST00000683174.1:n.7491del (ATM)
ENST00000683524.1:n.1231del (ATM)
ENST00000684152.1:n.1721del (ATM)
ENST00000527805.6:c.*1071del (ATM)
ENST00000675595.1:c.*1071del (ATM)
ENST00000675843.1:c.6007del (ATM)
ENST00000278616.8:c.6007del (ATM)
ENST00000452508.6:c.6007del (ATM)
ENST00000524792.5:n.2222del (ATM)
ENST00000525729.5:c.641-6751del (C11orf65)	ENSP00000433395.1:n.641-6751del
ENST00000529588.5:c.431del (ATM)
ENST00000532765.1:n.324del (ATM)
ENST00000533690.5:n.1411del (ATM)
NM_000051.3:c.6007del , LRG_135t1:c.6007del (ATM)
XM_005271561.3:c.6007del (ATM)
XM_005271562.3:c.6007del (ATM)
XM_006718843.2:c.6007del (ATM)
XM_006718845.1:c.1963del (ATM)
XM_011542840.1:c.6007del (ATM)
XM_011542841.1:c.6007del (ATM)
XM_011542842.1:c.5842del (ATM)
XM_011542843.1:c.6007del (ATM)
XM_011542844.1:c.4963del (ATM)
XM_011542845.1:c.4699del (ATM)
XM_011542847.1:c.1078del (ATM)
NM_001330368.1:c.641-6751del (C11orf65)	NP_001317297.1:n.641-6751del
NM_001351110.1:c.*39-6751del (C11orf65)	NP_001338039.1:n.*39-6751del
NM_001351834.1:c.6007del (ATM)
XM_005271562.5:c.6007del (ATM)
XM_006718843.4:c.6007del (ATM)
XM_006718845.2:c.1963del (ATM)
XM_011542840.3:c.6007del (ATM)
XM_011542842.3:c.5842del (ATM)
XM_011542843.2:c.6007del (ATM)
XM_011542844.3:c.4963del (ATM)
XM_011542845.2:c.4699del (ATM)
XM_017017789.2:c.6007del (ATM)
XM_017017790.2:c.6007del (ATM)
XM_017017791.1:c.6007del (ATM)
NM_001330368.2:c.641-6751del (C11orf65)	NP_001317297.1:n.641-6751del
NM_001351110.2:c.*39-6751del (C11orf65)	NP_001338039.1:n.*39-6751del
NM_001351834.2:c.6007del (ATM)
NM_000051.4:c.6007del (ATM)