Canonical Allele Identifier: CA16613051
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407473
ClinVar RCV Id: RCV000473997
dbSNP Id: rs1064792938

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289695_108289698delinsTAAAATAAA , CM000673.2:g.108289695_108289698delinsTAAAATAAA GRCh38
NC_000011.9:g.108160422_108160425delinsTAAAATAAA , CM000673.1:g.108160422_108160425delinsTAAAATAAA GRCh37
NC_000011.8:g.107665632_107665635delinsTAAAATAAA NCBI36
NG_009830.1:g.71864_71867delinsTAAAATAAA , LRG_135:g.71864_71867delinsTAAAATAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.4330_4333delinsTAAAATAAA ENSP00000388058.2:p.Leu1444Ter
ENST00000713593.1:c.*3801_*3804delinsTAAAATAAA ENSP00000518889.1:n.*3801_*3804delinsTAAA...
ENST00000278616.9:c.4330_4333delinsTAAAATAAA ENSP00000278616.4:p.Leu1444Ter
ENST00000533733.6:n.1593_1596delinsTAAAATAAA
ENST00000683174.1:n.4480_4483delinsTAAAATAAA
ENST00000527805.6:c.4330_4333delinsTAAAATAAA ENSP00000435747.2:p.Leu1444Ter
ENST00000675595.1:c.4165_4168delinsTAAAATAAA ENSP00000502563.1:p.Leu1389Ter
ENST00000675843.1:c.4330_4333delinsTAAAATAAA MANE Select ENSP00000501606.1:p.Leu1444Ter
ENST00000278616.8:c.4330_4333delinsTAAAATAAA ENSP00000278616.4:p.Leu1444Ter
ENST00000452508.6:c.4330_4333delinsTAAAATAAA ENSP00000388058.2:p.Leu1444Ter
ENST00000524792.5:n.545_548delinsTAAAATAAA
ENST00000531525.2:c.337_340delinsTAAAATAAA ENSP00000434327.2:p.Leu113Ter
ENST00000533733.5:n.759_762delinsTAAAATAAA
NM_000051.3:c.4330_4333delinsTAAAATAAA , LRG_135t1:c.4330_4333delinsTAAAATAAA NP_000042.3:p.Leu1444Ter
XM_005271561.3:c.4330_4333delinsTAAAATAAA XP_005271618.2:p.Leu1444Ter
XM_005271562.3:c.4330_4333delinsTAAAATAAA XP_005271619.2:p.Leu1444Ter
XM_006718843.2:c.4330_4333delinsTAAAATAAA XP_006718906.1:p.Leu1444Ter
XM_006718845.1:c.286_289delinsTAAAATAAA XP_006718908.1:p.Leu96Ter
XM_011542840.1:c.4330_4333delinsTAAAATAAA XP_011541142.1:p.Leu1444Ter
XM_011542841.1:c.4330_4333delinsTAAAATAAA XP_011541143.1:p.Leu1444Ter
XM_011542842.1:c.4165_4168delinsTAAAATAAA XP_011541144.1:p.Leu1389Ter
XM_011542843.1:c.4330_4333delinsTAAAATAAA XP_011541145.1:p.Leu1444Ter
XM_011542844.1:c.3286_3289delinsTAAAATAAA XP_011541146.1:p.Leu1096Ter
XM_011542845.1:c.3022_3025delinsTAAAATAAA XP_011541147.1:p.Leu1008Ter
XM_011542846.1:c.4330_4333delinsTAAAATAAA XP_011541148.1:p.Leu1444Ter
NM_001351834.1:c.4330_4333delinsTAAAATAAA NP_001338763.1:p.Leu1444Ter
XM_005271562.5:c.4330_4333delinsTAAAATAAA XP_005271619.2:p.Leu1444Ter
XM_006718843.4:c.4330_4333delinsTAAAATAAA XP_006718906.1:p.Leu1444Ter
XM_006718845.2:c.286_289delinsTAAAATAAA XP_006718908.1:p.Leu96Ter
XM_011542840.3:c.4330_4333delinsTAAAATAAA XP_011541142.1:p.Leu1444Ter
XM_011542842.3:c.4165_4168delinsTAAAATAAA XP_011541144.1:p.Leu1389Ter
XM_011542843.2:c.4330_4333delinsTAAAATAAA XP_011541145.1:p.Leu1444Ter
XM_011542844.3:c.3286_3289delinsTAAAATAAA XP_011541146.1:p.Leu1096Ter
XM_011542845.2:c.3022_3025delinsTAAAATAAA XP_011541147.1:p.Leu1008Ter
XM_017017789.2:c.4330_4333delinsTAAAATAAA XP_016873278.1:p.Leu1444Ter
XM_017017790.2:c.4330_4333delinsTAAAATAAA XP_016873279.1:p.Leu1444Ter
XM_017017791.1:c.4330_4333delinsTAAAATAAA XP_016873280.1:p.Leu1444Ter
XM_017017792.2:c.4330_4333delinsTAAAATAAA XP_016873281.1:p.Leu1444Ter
XR_002957150.1:n.5063_5066delinsTAAAATAAA
NM_001351834.2:c.4330_4333delinsTAAAATAAA NP_001338763.1:p.Leu1444Ter
NM_000051.4:c.4330_4333delinsTAAAATAAA MANE Select NP_000042.3:p.Leu1444Ter