Canonical Allele Identifier: CA2615844517
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108222908T>G , CM000673.2:g.108222908T>G GRCh38
NC_000011.9:g.108093635T>G , CM000673.1:g.108093635T>G GRCh37
NC_000011.8:g.107598845T>G NCBI36
NG_009830.1:g.5077T>G , LRG_135:g.5077T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-397T>G ENSP00000388058.2:n.-397T>G
ENST00000683914.2:c.-309T>G ENSP00000507649.1:n.-309T>G
ENST00000278616.8:c.-309T>G ENSP00000278616.4:n.-309T>G
ENST00000527805.5:c.-309T>G ENSP00000435747.1:n.-309T>G
NM_000051.3:c.-309T>G , LRG_135t1:c.-309T>G NP_000042.3:n.-309T>G
XM_011542843.1:c.-309T>G XP_011541145.1:n.-309T>G
XM_011542846.1:c.-309T>G XP_011541148.1:n.-309T>G
NM_001351834.1:c.-397T>G NP_001338763.1:n.-397T>G
NM_001351835.1:c.-309T>G NP_001338764.1:n.-309T>G
XM_011542842.3:c.-309T>G XP_011541144.1:n.-309T>G
XM_011542843.2:c.-309T>G XP_011541145.1:n.-309T>G
XM_011542844.3:c.-1331T>G XP_011541146.1:n.-1331T>G
XM_017017791.1:c.-309T>G XP_016873280.1:n.-309T>G
XM_017017792.2:c.-309T>G XP_016873281.1:n.-309T>G
XR_002957150.1:n.425T>G