Canonical Allele Identifier: CA382543021
Gene: ATM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108302857T>G , CM000673.2:g.108302857T>G GRCh38
NC_000011.9:g.108173584T>G , CM000673.1:g.108173584T>G GRCh37
NC_000011.8:g.107678794T>G NCBI36
NG_009830.1:g.85026T>G , LRG_135:g.85026T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.5324T>G ENSP00000388058.2:p.Leu1775Ter
ENST00000713593.1:c.*4795T>G ENSP00000518889.1:n.*4795T>G
ENST00000278616.9:c.5324T>G ENSP00000278616.4:p.Leu1775Ter
ENST00000683174.1:n.6808T>G
ENST00000683524.1:n.548T>G
ENST00000684152.1:n.1038T>G
ENST00000527805.6:c.*388T>G ENSP00000435747.2:n.*388T>G
ENST00000675595.1:c.*388T>G ENSP00000502563.1:n.*388T>G
ENST00000675843.1:c.5324T>G MANE Select ENSP00000501606.1:p.Leu1775Ter
ENST00000278616.8:c.5324T>G ENSP00000278616.4:p.Leu1775Ter
ENST00000452508.6:c.5324T>G ENSP00000388058.2:p.Leu1775Ter
ENST00000524792.5:n.1539T>G
ENST00000533690.5:n.728T>G
ENST00000534625.1:n.553T>G
NM_000051.3:c.5324T>G , LRG_135t1:c.5324T>G NP_000042.3:p.Leu1775Ter
XM_005271561.3:c.5324T>G XP_005271618.2:p.Leu1775Ter
XM_005271562.3:c.5324T>G XP_005271619.2:p.Leu1775Ter
XM_006718843.2:c.5324T>G XP_006718906.1:p.Leu1775Ter
XM_006718845.1:c.1280T>G XP_006718908.1:p.Leu427Ter
XM_011542840.1:c.5324T>G XP_011541142.1:p.Leu1775Ter
XM_011542841.1:c.5324T>G XP_011541143.1:p.Leu1775Ter
XM_011542842.1:c.5159T>G XP_011541144.1:p.Leu1720Ter
XM_011542843.1:c.5324T>G XP_011541145.1:p.Leu1775Ter
XM_011542844.1:c.4280T>G XP_011541146.1:p.Leu1427Ter
XM_011542845.1:c.4016T>G XP_011541147.1:p.Leu1339Ter
XM_011542846.1:c.5325T>G XP_011541148.1:p.Phe1775Leu
XM_011542847.1:c.395T>G XP_011541149.1:p.Leu132Ter
NM_001351834.1:c.5324T>G NP_001338763.1:p.Leu1775Ter
XM_005271562.5:c.5324T>G XP_005271619.2:p.Leu1775Ter
XM_006718843.4:c.5324T>G XP_006718906.1:p.Leu1775Ter
XM_006718845.2:c.1280T>G XP_006718908.1:p.Leu427Ter
XM_011542840.3:c.5324T>G XP_011541142.1:p.Leu1775Ter
XM_011542842.3:c.5159T>G XP_011541144.1:p.Leu1720Ter
XM_011542843.2:c.5324T>G XP_011541145.1:p.Leu1775Ter
XM_011542844.3:c.4280T>G XP_011541146.1:p.Leu1427Ter
XM_011542845.2:c.4016T>G XP_011541147.1:p.Leu1339Ter
XM_017017789.2:c.5324T>G XP_016873278.1:p.Leu1775Ter
XM_017017790.2:c.5324T>G XP_016873279.1:p.Leu1775Ter
XM_017017791.1:c.5324T>G XP_016873280.1:p.Leu1775Ter
XM_017017792.2:c.*5T>G XP_016873281.1:n.*5T>G
XR_002957150.1:n.5924T>G
NM_001351834.2:c.5324T>G NP_001338763.1:p.Leu1775Ter
NM_000051.4:c.5324T>G MANE Select NP_000042.3:p.Leu1775Ter