Canonical Allele Identifier: CA2615845720
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223161A>G , CM000673.2:g.108223161A>G GRCh38
NC_000011.9:g.108093888A>G , CM000673.1:g.108093888A>G GRCh37
NC_000011.8:g.107599098A>G NCBI36
NG_009830.1:g.5330A>G , LRG_135:g.5330A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-144A>G ENSP00000388058.2:n.-144A>G
ENST00000683914.2:c.-56A>G ENSP00000507649.1:n.-56A>G
ENST00000713593.1:c.-56A>G ENSP00000518889.1:n.-56A>G
ENST00000683150.1:c.-207A>G ENSP00000507125.1:n.-207A>G
ENST00000683174.1:n.95A>G
ENST00000683468.1:c.-4464A>G ENSP00000508178.1:n.-4464A>G
ENST00000683488.1:n.118A>G
ENST00000683914.1:c.-56A>G ENSP00000507649.1:n.-56A>G
ENST00000527805.6:c.-56A>G ENSP00000435747.2:n.-56A>G
ENST00000675595.1:c.-56A>G ENSP00000502563.1:n.-56A>G
ENST00000675843.1:c.-56A>G MANE Select ENSP00000501606.1:n.-56A>G
ENST00000278616.8:c.-56A>G ENSP00000278616.4:n.-56A>G
ENST00000452508.6:c.-144A>G ENSP00000388058.2:n.-144A>G
ENST00000527805.5:c.-56A>G ENSP00000435747.1:n.-56A>G
ENST00000527891.5:c.-56A>G ENSP00000433955.1:n.-56A>G
ENST00000530958.5:c.-4464A>G ENSP00000483338.1:n.-4464A>G
ENST00000532931.5:c.-130A>G ENSP00000432318.1:n.-130A>G
NM_000051.3:c.-56A>G , LRG_135t1:c.-56A>G NP_000042.3:n.-56A>G
XM_005271561.3:c.-144A>G XP_005271618.2:n.-144A>G
XM_011542841.1:c.-847A>G XP_011541143.1:n.-847A>G
XM_011542842.1:c.-56A>G XP_011541144.1:n.-56A>G
XM_011542843.1:c.-56A>G XP_011541145.1:n.-56A>G
XM_011542846.1:c.-56A>G XP_011541148.1:n.-56A>G
NM_001351834.1:c.-144A>G NP_001338763.1:n.-144A>G
NM_001351835.1:c.-56A>G NP_001338764.1:n.-56A>G
XM_011542842.3:c.-56A>G XP_011541144.1:n.-56A>G
XM_011542843.2:c.-56A>G XP_011541145.1:n.-56A>G
XM_011542844.3:c.-1078A>G XP_011541146.1:n.-1078A>G
XM_017017791.1:c.-56A>G XP_016873280.1:n.-56A>G
XM_017017792.2:c.-56A>G XP_016873281.1:n.-56A>G
XR_002957150.1:n.678A>G
NM_001351834.2:c.-144A>G NP_001338763.1:n.-144A>G
NM_000051.4:c.-56A>G MANE Select NP_000042.3:n.-56A>G
NM_001351835.2:c.-56A>G NP_001338764.1:n.-56A>G