Canonical Allele Identifier: CA915944391

Gene: ATM

Linked Data

• ClinVar Variation Id: 664095
• ClinVar RCV Id: RCV000822113
• dbSNP Id: rs1591631866

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108279489_108279502dup , CM000673.2:g.108279489_108279502dup	GRCh38
NC_000011.9:g.108150216_108150229dup , CM000673.1:g.108150216_108150229dup	GRCh37
NC_000011.8:g.107655426_107655439dup	NCBI36
NG_009830.1:g.61658_61671dup , LRG_135:g.61658_61671dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3285-2_3296dup
ENST00000713593.1:c.*2756-2_*2767dup
ENST00000278616.9:c.3285-2_3296dup
ENST00000683174.1:n.3435-2_3446dup
ENST00000527805.6:c.3285-2_3296dup
ENST00000675595.1:c.3120-2_3131dup
ENST00000675843.1:c.3285-2_3296dup
ENST00000278616.8:c.3285-2_3296dup
ENST00000452508.6:c.3285-2_3296dup
ENST00000527805.5:c.3285-2_3296dup
NM_000051.3:c.3285-2_3296dup , LRG_135t1:c.3285-2_3296dup
XM_005271561.3:c.3285-2_3296dup
XM_005271562.3:c.3285-2_3296dup
XM_006718843.2:c.3285-2_3296dup
XM_011542840.1:c.3285-2_3296dup
XM_011542841.1:c.3285-2_3296dup
XM_011542842.1:c.3120-2_3131dup
XM_011542843.1:c.3285-2_3296dup
XM_011542844.1:c.2241-2_2252dup
XM_011542845.1:c.1977-2_1988dup
XM_011542846.1:c.3285-2_3296dup
NM_001351834.1:c.3285-2_3296dup
XM_005271562.5:c.3285-2_3296dup
XM_006718843.4:c.3285-2_3296dup
XM_011542840.3:c.3285-2_3296dup
XM_011542842.3:c.3120-2_3131dup
XM_011542843.2:c.3285-2_3296dup
XM_011542844.3:c.2241-2_2252dup
XM_011542845.2:c.1977-2_1988dup
XM_017017789.2:c.3285-2_3296dup
XM_017017790.2:c.3285-2_3296dup
XM_017017791.1:c.3285-2_3296dup
XM_017017792.2:c.3285-2_3296dup
XR_002957150.1:n.4018-2_4029dup
NM_001351834.2:c.3285-2_3296dup
NM_000051.4:c.3285-2_3296dup