Canonical Allele Identifier: CA1139662160

Gene: ATM

Linked Data

• ClinVar Variation Id: 956017
• ClinVar RCV Id: RCV001228749
• dbSNP Id: rs2080290215

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108253806_108253819del , CM000673.2:g.108253806_108253819del	GRCh38
NC_000011.9:g.108124533_108124546del , CM000673.1:g.108124533_108124546del	GRCh37
NC_000011.8:g.107629743_107629756del	NCBI36
NG_009830.1:g.35975_35988del , LRG_135:g.35975_35988del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1899-8_1904del
ENST00000713593.1:c.*1370-8_*1375del
ENST00000278616.9:c.1899-8_1904del
ENST00000682516.1:n.2033-8_2038del
ENST00000683174.1:n.2049-8_2054del
ENST00000683605.1:n.1394-8_1399del
ENST00000684037.1:c.*834-8_*839del
ENST00000684061.1:n.2033-8_2038del
ENST00000527805.6:c.1899-8_1904del
ENST00000675595.1:c.1734-8_1739del
ENST00000675843.1:c.1899-8_1904del
ENST00000278616.8:c.1899-8_1904del
ENST00000452508.6:c.1899-8_1904del
ENST00000525012.5:n.93-25_93-12del
ENST00000527805.5:c.1899-8_1904del
ENST00000533526.1:n.93-49_93-36del
NM_000051.3:c.1899-8_1904del , LRG_135t1:c.1899-8_1904del
XM_005271561.3:c.1899-8_1904del
XM_005271562.3:c.1899-8_1904del
XM_006718843.2:c.1899-8_1904del
XM_011542840.1:c.1899-8_1904del
XM_011542841.1:c.1899-8_1904del
XM_011542842.1:c.1734-8_1739del
XM_011542843.1:c.1899-8_1904del
XM_011542844.1:c.855-8_860del
XM_011542845.1:c.591-8_596del
XM_011542846.1:c.1899-8_1904del
NM_001351834.1:c.1899-8_1904del
XM_005271562.5:c.1899-8_1904del
XM_006718843.4:c.1899-8_1904del
XM_011542840.3:c.1899-8_1904del
XM_011542842.3:c.1734-8_1739del
XM_011542843.2:c.1899-8_1904del
XM_011542844.3:c.855-8_860del
XM_011542845.2:c.591-8_596del
XM_017017789.2:c.1899-8_1904del
XM_017017790.2:c.1899-8_1904del
XM_017017791.1:c.1899-8_1904del
XM_017017792.2:c.1899-8_1904del
XR_002957150.1:n.2632-8_2637del
NM_001351834.2:c.1899-8_1904del
NM_000051.4:c.1899-8_1904del