Canonical Allele Identifier: CA16041383
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 370378
ClinVar RCV Id: RCV000411113
dbSNP Id: rs1057516442

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108245002A>T , CM000673.2:g.108245002A>T GRCh38
NC_000011.9:g.108115729A>T , CM000673.1:g.108115729A>T GRCh37
NC_000011.8:g.107620939A>T NCBI36
NG_009830.1:g.27171A>T , LRG_135:g.27171A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.877A>T ENSP00000388058.2:p.Lys293Ter
ENST00000713593.1:c.*348A>T ENSP00000518889.1:n.*348A>T
ENST00000278616.9:c.877A>T ENSP00000278616.4:p.Lys293Ter
ENST00000682430.1:n.976A>T
ENST00000682516.1:n.1011A>T
ENST00000682956.1:n.1011A>T
ENST00000683100.1:n.3224A>T
ENST00000683174.1:n.1027A>T
ENST00000683605.1:n.372A>T
ENST00000684037.1:c.877A>T ENSP00000508245.1:p.Lys293Ter
ENST00000684061.1:n.1011A>T
ENST00000684179.1:n.846A>T
ENST00000527805.6:c.877A>T ENSP00000435747.2:p.Lys293Ter
ENST00000675595.1:c.712A>T ENSP00000502563.1:p.Lys238Ter
ENST00000675843.1:c.877A>T MANE Select ENSP00000501606.1:p.Lys293Ter
ENST00000278616.8:c.877A>T ENSP00000278616.4:p.Lys293Ter
ENST00000452508.6:c.877A>T ENSP00000388058.2:p.Lys293Ter
ENST00000527805.5:c.877A>T ENSP00000435747.1:p.Lys293Ter
NM_000051.3:c.877A>T , LRG_135t1:c.877A>T NP_000042.3:p.Lys293Ter
XM_005271561.3:c.877A>T XP_005271618.2:p.Lys293Ter
XM_005271562.3:c.877A>T XP_005271619.2:p.Lys293Ter
XM_006718843.2:c.877A>T XP_006718906.1:p.Lys293Ter
XM_011542840.1:c.877A>T XP_011541142.1:p.Lys293Ter
XM_011542841.1:c.877A>T XP_011541143.1:p.Lys293Ter
XM_011542842.1:c.712A>T XP_011541144.1:p.Lys238Ter
XM_011542843.1:c.877A>T XP_011541145.1:p.Lys293Ter
XM_011542844.1:c.-168A>T XP_011541146.1:n.-168A>T
XM_011542846.1:c.877A>T XP_011541148.1:p.Lys293Ter
NM_001351834.1:c.877A>T NP_001338763.1:p.Lys293Ter
XM_005271562.5:c.877A>T XP_005271619.2:p.Lys293Ter
XM_006718843.4:c.877A>T XP_006718906.1:p.Lys293Ter
XM_011542840.3:c.877A>T XP_011541142.1:p.Lys293Ter
XM_011542842.3:c.712A>T XP_011541144.1:p.Lys238Ter
XM_011542843.2:c.877A>T XP_011541145.1:p.Lys293Ter
XM_011542844.3:c.-168A>T XP_011541146.1:n.-168A>T
XM_017017789.2:c.877A>T XP_016873278.1:p.Lys293Ter
XM_017017790.2:c.877A>T XP_016873279.1:p.Lys293Ter
XM_017017791.1:c.877A>T XP_016873280.1:p.Lys293Ter
XM_017017792.2:c.877A>T XP_016873281.1:p.Lys293Ter
XR_002957150.1:n.1610A>T
NM_001351834.2:c.877A>T NP_001338763.1:p.Lys293Ter
NM_000051.4:c.877A>T MANE Select NP_000042.3:p.Lys293Ter