Canonical Allele Identifier: CA913188505

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 628597
• ClinVar RCV Id: RCV000773132

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315823_108315845dup , CM000673.2:g.108315823_108315845dup	GRCh38
NC_000011.9:g.108186550_108186572dup , CM000673.1:g.108186550_108186572dup	GRCh37
NC_000011.8:g.107691760_107691782dup	NCBI36
NG_009830.1:g.97992_98014dup , LRG_135:g.97992_98014dup
NG_054724.1:g.158991_159013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6007_6029dup (ATM)
ENST00000713593.1:c.*5478_*5500dup (ATM)
ENST00000278616.9:c.6007_6029dup (ATM)
ENST00000525056.2:n.426_448dup (ATM)
ENST00000682286.1:n.764_786dup (ATM)
ENST00000682302.1:n.425_447dup (ATM)
ENST00000683174.1:n.7491_7513dup (ATM)
ENST00000683524.1:n.1231_1253dup (ATM)
ENST00000684152.1:n.1721_1743dup (ATM)
ENST00000527805.6:c.*1071_*1093dup (ATM)
ENST00000675595.1:c.*1071_*1093dup (ATM)
ENST00000675843.1:c.6007_6029dup (ATM)
ENST00000278616.8:c.6007_6029dup (ATM)
ENST00000452508.6:c.6007_6029dup (ATM)
ENST00000524792.5:n.2222_2244dup (ATM)
ENST00000525729.5:c.641-6771_641-6749dup (C11orf65)	ENSP00000433395.1:n.641-6771_641-6749dup
ENST00000529588.5:c.431_453dup (ATM)
ENST00000532765.1:n.324_346dup (ATM)
ENST00000533690.5:n.1411_1433dup (ATM)
NM_000051.3:c.6007_6029dup , LRG_135t1:c.6007_6029dup (ATM)
XM_005271561.3:c.6007_6029dup (ATM)
XM_005271562.3:c.6007_6029dup (ATM)
XM_006718843.2:c.6007_6029dup (ATM)
XM_006718845.1:c.1963_1985dup (ATM)
XM_011542840.1:c.6007_6029dup (ATM)
XM_011542841.1:c.6007_6029dup (ATM)
XM_011542842.1:c.5842_5864dup (ATM)
XM_011542843.1:c.6007_6029dup (ATM)
XM_011542844.1:c.4963_4985dup (ATM)
XM_011542845.1:c.4699_4721dup (ATM)
XM_011542847.1:c.1078_1100dup (ATM)
NM_001330368.1:c.641-6771_641-6749dup (C11orf65)	NP_001317297.1:n.641-6771_641-6749dup
NM_001351110.1:c.*39-6771_*39-6749dup (C11orf65)	NP_001338039.1:n.*39-6771_*39-6749dup
NM_001351834.1:c.6007_6029dup (ATM)
XM_005271562.5:c.6007_6029dup (ATM)
XM_006718843.4:c.6007_6029dup (ATM)
XM_006718845.2:c.1963_1985dup (ATM)
XM_011542840.3:c.6007_6029dup (ATM)
XM_011542842.3:c.5842_5864dup (ATM)
XM_011542843.2:c.6007_6029dup (ATM)
XM_011542844.3:c.4963_4985dup (ATM)
XM_011542845.2:c.4699_4721dup (ATM)
XM_017017789.2:c.6007_6029dup (ATM)
XM_017017790.2:c.6007_6029dup (ATM)
XM_017017791.1:c.6007_6029dup (ATM)
NM_001330368.2:c.641-6771_641-6749dup (C11orf65)	NP_001317297.1:n.641-6771_641-6749dup
NM_001351110.2:c.*39-6771_*39-6749dup (C11orf65)	NP_001338039.1:n.*39-6771_*39-6749dup
NM_001351834.2:c.6007_6029dup (ATM)
NM_000051.4:c.6007_6029dup (ATM)