Canonical Allele Identifier: CA16041414
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370262
ClinVar RCV Id: RCV000410022
dbSNP Id: rs1057516358

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108299838_108299839delinsAC , CM000673.2:g.108299838_108299839delinsAC GRCh38
NC_000011.9:g.108170565_108170566delinsAC , CM000673.1:g.108170565_108170566delinsAC GRCh37
NC_000011.8:g.107675775_107675776delinsAC NCBI36
NG_009830.1:g.82007_82008delinsAC , LRG_135:g.82007_82008delinsAC

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.5130_5131delinsAC , LRG_135t1:c.5130_5131delinsAC NP_000042.3:p.Trp1710Ter
XM_005271561.3:c.5130_5131delinsAC XP_005271618.2:p.Trp1710Ter
XM_005271562.3:c.5130_5131delinsAC XP_005271619.2:p.Trp1710Ter
XM_006718843.2:c.5130_5131delinsAC XP_006718906.1:p.Trp1710Ter
XM_006718845.1:c.1086_1087delinsAC XP_006718908.1:p.Trp362Ter
XM_011542840.1:c.5130_5131delinsAC XP_011541142.1:p.Trp1710Ter
XM_011542841.1:c.5130_5131delinsAC XP_011541143.1:p.Trp1710Ter
XM_011542842.1:c.4965_4966delinsAC XP_011541144.1:p.Trp1655Ter
XM_011542843.1:c.5130_5131delinsAC XP_011541145.1:p.Trp1710Ter
XM_011542844.1:c.4086_4087delinsAC XP_011541146.1:p.Trp1362Ter
XM_011542845.1:c.3822_3823delinsAC XP_011541147.1:p.Trp1274Ter
XM_011542846.1:c.5130_5131delinsAC XP_011541148.1:p.Trp1710Ter
XM_011542847.1:c.201_202delinsAC XP_011541149.1:p.Trp67Ter
NM_001351834.1:c.5130_5131delinsAC VV NP_001338763.1:p.Trp1710Ter
XM_005271562.5:c.5130_5131delinsAC XP_005271619.2:p.Trp1710Ter
XM_006718843.4:c.5130_5131delinsAC XP_006718906.1:p.Trp1710Ter
XM_006718845.2:c.1086_1087delinsAC XP_006718908.1:p.Trp362Ter
XM_011542840.3:c.5130_5131delinsAC XP_011541142.1:p.Trp1710Ter
XM_011542842.3:c.4965_4966delinsAC XP_011541144.1:p.Trp1655Ter
XM_011542843.2:c.5130_5131delinsAC XP_011541145.1:p.Trp1710Ter
XM_011542844.3:c.4086_4087delinsAC XP_011541146.1:p.Trp1362Ter
XM_011542845.2:c.3822_3823delinsAC XP_011541147.1:p.Trp1274Ter
XM_017017789.2:c.5130_5131delinsAC XP_016873278.1:p.Trp1710Ter
XM_017017790.2:c.5130_5131delinsAC XP_016873279.1:p.Trp1710Ter
XM_017017791.1:c.5130_5131delinsAC XP_016873280.1:p.Trp1710Ter
XM_017017792.2:c.5130_5131delinsAC XP_016873281.1:p.Trp1710Ter
XR_002957150.1:n.5730_5731delinsAC
ENST00000278616.8:c.5130_5131delinsAC ENSP00000278616.4:p.Trp1710Ter
ENST00000452508.6:c.5130_5131delinsAC ENSP00000388058.2:p.Trp1710Ter
ENST00000524792.5:n.1345_1346delinsAC
ENST00000533690.5:n.534_535delinsAC
ENST00000534625.1:n.359_360delinsAC