Canonical Allele Identifier: CA16619097
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 418024
ClinVar RCV Id: RCV002350048
dbSNP Id: rs1064793031

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108244017_108244018delinsT , CM000673.2:g.108244017_108244018delinsT GRCh38
NC_000011.9:g.108114744_108114745delinsT , CM000673.1:g.108114744_108114745delinsT GRCh37
NC_000011.8:g.107619954_107619955delinsT NCBI36
NG_009830.1:g.26186_26187delinsT , LRG_135:g.26186_26187delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.561_562delinsT ENSP00000388058.2:p.Ala188LeufsTer3
ENST00000713593.1:c.*32_*33delinsT ENSP00000518889.1:n.*32_*33delinsT
ENST00000278616.9:c.561_562delinsT ENSP00000278616.4:p.Ala188LeufsTer3
ENST00000682430.1:n.660_661delinsT
ENST00000682516.1:n.695_696delinsT
ENST00000682956.1:n.695_696delinsT
ENST00000683100.1:n.2239_2240delinsT
ENST00000683174.1:n.711_712delinsT
ENST00000683605.1:n.56_57delinsT
ENST00000684037.1:c.561_562delinsT ENSP00000508245.1:p.Ala188LeufsTer3
ENST00000684061.1:n.695_696delinsT
ENST00000684179.1:n.530_531delinsT
ENST00000527805.6:c.561_562delinsT ENSP00000435747.2:p.Ala188LeufsTer3
ENST00000675595.1:c.396_397delinsT ENSP00000502563.1:p.Ala133LeufsTer3
ENST00000675843.1:c.561_562delinsT MANE Select ENSP00000501606.1:p.Ala188LeufsTer3
ENST00000278616.8:c.561_562delinsT ENSP00000278616.4:p.Ala188LeufsTer3
ENST00000452508.6:c.561_562delinsT ENSP00000388058.2:p.Ala188LeufsTer3
ENST00000527805.5:c.561_562delinsT ENSP00000435747.1:p.Ala188LeufsTer3
ENST00000527891.5:c.396_397delinsT ENSP00000433955.1:p.Ala133LeufsTer3
NM_000051.3:c.561_562delinsT , LRG_135t1:c.561_562delinsT NP_000042.3:p.Ala188LeufsTer3
XM_005271561.3:c.561_562delinsT XP_005271618.2:p.Ala188LeufsTer3
XM_005271562.3:c.561_562delinsT XP_005271619.2:p.Ala188LeufsTer3
XM_006718843.2:c.561_562delinsT XP_006718906.1:p.Ala188LeufsTer3
XM_011542840.1:c.561_562delinsT XP_011541142.1:p.Ala188LeufsTer3
XM_011542841.1:c.561_562delinsT XP_011541143.1:p.Ala188LeufsTer3
XM_011542842.1:c.396_397delinsT XP_011541144.1:p.Ala133LeufsTer3
XM_011542843.1:c.561_562delinsT XP_011541145.1:p.Ala188LeufsTer3
XM_011542844.1:c.-484_-483delinsT XP_011541146.1:n.-484_-483delinsT
XM_011542846.1:c.561_562delinsT XP_011541148.1:p.Ala188LeufsTer3
NM_001351834.1:c.561_562delinsT NP_001338763.1:p.Ala188LeufsTer3
XM_005271562.5:c.561_562delinsT XP_005271619.2:p.Ala188LeufsTer3
XM_006718843.4:c.561_562delinsT XP_006718906.1:p.Ala188LeufsTer3
XM_011542840.3:c.561_562delinsT XP_011541142.1:p.Ala188LeufsTer3
XM_011542842.3:c.396_397delinsT XP_011541144.1:p.Ala133LeufsTer3
XM_011542843.2:c.561_562delinsT XP_011541145.1:p.Ala188LeufsTer3
XM_011542844.3:c.-484_-483delinsT XP_011541146.1:n.-484_-483delinsT
XM_017017789.2:c.561_562delinsT XP_016873278.1:p.Ala188LeufsTer3
XM_017017790.2:c.561_562delinsT XP_016873279.1:p.Ala188LeufsTer3
XM_017017791.1:c.561_562delinsT XP_016873280.1:p.Ala188LeufsTer3
XM_017017792.2:c.561_562delinsT XP_016873281.1:p.Ala188LeufsTer3
XR_002957150.1:n.1294_1295delinsT
NM_001351834.2:c.561_562delinsT NP_001338763.1:p.Ala188LeufsTer3
NM_000051.4:c.561_562delinsT MANE Select NP_000042.3:p.Ala188LeufsTer3