Canonical Allele Identifier: CA1998791820
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108284261_108284262delinsAT , CM000673.2:g.108284261_108284262delinsAT GRCh38
NC_000011.9:g.108154988_108154989delinsAT , CM000673.1:g.108154988_108154989delinsAT GRCh37
NC_000011.8:g.107660198_107660199delinsAT NCBI36
NG_009830.1:g.66430_66431delinsAT , LRG_135:g.66430_66431delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.3781_3782delinsAT ENSP00000388058.2:p.Ile1261=
ENST00000713593.1:c.*3252_*3253delinsAT ENSP00000518889.1:n.*3252_*3253delinsAT
ENST00000278616.9:c.3781_3782delinsAT ENSP00000278616.4:p.Ile1261=
ENST00000682289.1:n.128_129delinsAT
ENST00000683174.1:n.3931_3932delinsAT
ENST00000527805.6:c.3781_3782delinsAT ENSP00000435747.2:p.Ile1261=
ENST00000675595.1:c.3616_3617delinsAT ENSP00000502563.1:p.Ile1206=
ENST00000675843.1:c.3781_3782delinsAT MANE Select ENSP00000501606.1:p.Ile1261=
ENST00000278616.8:c.3781_3782delinsAT ENSP00000278616.4:p.Ile1261=
ENST00000452508.6:c.3781_3782delinsAT ENSP00000388058.2:p.Ile1261=
ENST00000527805.5:c.3781_3782delinsAT ENSP00000435747.1:p.Ile1261=
NM_000051.3:c.3781_3782delinsAT , LRG_135t1:c.3781_3782delinsAT NP_000042.3:p.Ile1261=
XM_005271561.3:c.3781_3782delinsAT XP_005271618.2:p.Ile1261=
XM_005271562.3:c.3781_3782delinsAT XP_005271619.2:p.Ile1261=
XM_006718843.2:c.3781_3782delinsAT XP_006718906.1:p.Ile1261=
XM_011542840.1:c.3781_3782delinsAT XP_011541142.1:p.Ile1261=
XM_011542841.1:c.3781_3782delinsAT XP_011541143.1:p.Ile1261=
XM_011542842.1:c.3616_3617delinsAT XP_011541144.1:p.Ile1206=
XM_011542843.1:c.3781_3782delinsAT XP_011541145.1:p.Ile1261=
XM_011542844.1:c.2737_2738delinsAT XP_011541146.1:p.Ile913=
XM_011542845.1:c.2473_2474delinsAT XP_011541147.1:p.Ile825=
XM_011542846.1:c.3781_3782delinsAT XP_011541148.1:p.Ile1261=
NM_001351834.1:c.3781_3782delinsAT NP_001338763.1:p.Ile1261=
XM_005271562.5:c.3781_3782delinsAT XP_005271619.2:p.Ile1261=
XM_006718843.4:c.3781_3782delinsAT XP_006718906.1:p.Ile1261=
XM_011542840.3:c.3781_3782delinsAT XP_011541142.1:p.Ile1261=
XM_011542842.3:c.3616_3617delinsAT XP_011541144.1:p.Ile1206=
XM_011542843.2:c.3781_3782delinsAT XP_011541145.1:p.Ile1261=
XM_011542844.3:c.2737_2738delinsAT XP_011541146.1:p.Ile913=
XM_011542845.2:c.2473_2474delinsAT XP_011541147.1:p.Ile825=
XM_017017789.2:c.3781_3782delinsAT XP_016873278.1:p.Ile1261=
XM_017017790.2:c.3781_3782delinsAT XP_016873279.1:p.Ile1261=
XM_017017791.1:c.3781_3782delinsAT XP_016873280.1:p.Ile1261=
XM_017017792.2:c.3781_3782delinsAT XP_016873281.1:p.Ile1261=
XR_002957150.1:n.4514_4515delinsAT
NM_001351834.2:c.3781_3782delinsAT NP_001338763.1:p.Ile1261=
NM_000051.4:c.3781_3782delinsAT MANE Select NP_000042.3:p.Ile1261=