Canonical Allele Identifier: CA10582808
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 236699
ClinVar RCV Id: RCV000230993
dbSNP Id: rs878853500

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108272614_108272615insA , CM000673.2:g.108272614_108272615insA GRCh38
NC_000011.9:g.108143341_108143342insA , CM000673.1:g.108143341_108143342insA GRCh37
NC_000011.8:g.107648551_107648552insA NCBI36
NG_009830.1:g.54783_54784insA , LRG_135:g.54783_54784insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.3153+7_3153+8insA ENSP00000388058.2:n.3153+7_3153+8insA
ENST00000713593.1:c.*2624+7_*2624+8insA ENSP00000518889.1:n.*2624+7_*2624+8insA
ENST00000278616.9:c.3153+7_3153+8insA ENSP00000278616.4:n.3153+7_3153+8insA
ENST00000683174.1:n.3303+7_3303+8insA
ENST00000527805.6:c.3153+7_3153+8insA ENSP00000435747.2:n.3153+7_3153+8insA
ENST00000675595.1:c.2988+7_2988+8insA ENSP00000502563.1:n.2988+7_2988+8insA
ENST00000675843.1:c.3153+7_3153+8insA MANE Select ENSP00000501606.1:n.3153+7_3153+8insA
ENST00000278616.8:c.3153+7_3153+8insA ENSP00000278616.4:n.3153+7_3153+8insA
ENST00000452508.6:c.3153+7_3153+8insA ENSP00000388058.2:n.3153+7_3153+8insA
ENST00000527805.5:c.3153+7_3153+8insA ENSP00000435747.1:n.3153+7_3153+8insA
NM_000051.3:c.3153+7_3153+8insA , LRG_135t1:c.3153+7_3153+8insA NP_000042.3:n.3153+7_3153+8insA
XM_005271561.3:c.3153+7_3153+8insA XP_005271618.2:n.3153+7_3153+8insA
XM_005271562.3:c.3153+7_3153+8insA XP_005271619.2:n.3153+7_3153+8insA
XM_006718843.2:c.3153+7_3153+8insA XP_006718906.1:n.3153+7_3153+8insA
XM_011542840.1:c.3153+7_3153+8insA XP_011541142.1:n.3153+7_3153+8insA
XM_011542841.1:c.3153+7_3153+8insA XP_011541143.1:n.3153+7_3153+8insA
XM_011542842.1:c.2988+7_2988+8insA XP_011541144.1:n.2988+7_2988+8insA
XM_011542843.1:c.3153+7_3153+8insA XP_011541145.1:n.3153+7_3153+8insA
XM_011542844.1:c.2109+7_2109+8insA XP_011541146.1:n.2109+7_2109+8insA
XM_011542845.1:c.1845+7_1845+8insA XP_011541147.1:n.1845+7_1845+8insA
XM_011542846.1:c.3153+7_3153+8insA XP_011541148.1:n.3153+7_3153+8insA
NM_001351834.1:c.3153+7_3153+8insA NP_001338763.1:n.3153+7_3153+8insA
XM_005271562.5:c.3153+7_3153+8insA XP_005271619.2:n.3153+7_3153+8insA
XM_006718843.4:c.3153+7_3153+8insA XP_006718906.1:n.3153+7_3153+8insA
XM_011542840.3:c.3153+7_3153+8insA XP_011541142.1:n.3153+7_3153+8insA
XM_011542842.3:c.2988+7_2988+8insA XP_011541144.1:n.2988+7_2988+8insA
XM_011542843.2:c.3153+7_3153+8insA XP_011541145.1:n.3153+7_3153+8insA
XM_011542844.3:c.2109+7_2109+8insA XP_011541146.1:n.2109+7_2109+8insA
XM_011542845.2:c.1845+7_1845+8insA XP_011541147.1:n.1845+7_1845+8insA
XM_017017789.2:c.3153+7_3153+8insA XP_016873278.1:n.3153+7_3153+8insA
XM_017017790.2:c.3153+7_3153+8insA XP_016873279.1:n.3153+7_3153+8insA
XM_017017791.1:c.3153+7_3153+8insA XP_016873280.1:n.3153+7_3153+8insA
XM_017017792.2:c.3153+7_3153+8insA XP_016873281.1:n.3153+7_3153+8insA
XR_002957150.1:n.3886+7_3886+8insA
NM_001351834.2:c.3153+7_3153+8insA NP_001338763.1:n.3153+7_3153+8insA
NM_000051.4:c.3153+7_3153+8insA MANE Select NP_000042.3:n.3153+7_3153+8insA