Canonical Allele Identifier: CA10587105
Community Standard Title: NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289762_108289763delinsCG , CM000673.2:g.108289762_108289763delinsCG GRCh38
NC_000011.9:g.108160489_108160490delinsCG , CM000673.1:g.108160489_108160490delinsCG GRCh37
NC_000011.8:g.107665699_107665700delinsCG NCBI36
NG_009830.1:g.71931_71932delinsCG , LRG_135:g.71931_71932delinsCG

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.4397_4398delinsCG MANE Select NP_000042.3:p.Arg1466Pro
ENST00000675843.1:c.4397_4398delinsCG MANE Select ENSP00000501606.1:p.Arg1466Pro
NM_000051.3:c.4397_4398delinsCG , LRG_135t1:c.4397_4398delinsCG NP_000042.3:p.Arg1466Pro
NM_001351834.1:c.4397_4398delinsCG NP_001338763.1:p.Arg1466Pro
NM_001351834.2:c.4397_4398delinsCG NP_001338763.1:p.Arg1466Pro
ENST00000278616.8:c.4397_4398delinsCG ENSP00000278616.4:p.Arg1466Pro
ENST00000278616.9:c.4397_4398delinsCG ENSP00000278616.4:p.Arg1466Pro
ENST00000452508.6:c.4397_4398delinsCG ENSP00000388058.2:p.Arg1466Pro
ENST00000452508.7:c.4397_4398delinsCG ENSP00000388058.2:p.Arg1466Pro
ENST00000524792.5:n.612_613delinsCG
ENST00000527805.6:c.4397_4398delinsCG ENSP00000435747.2:p.Arg1466Pro
ENST00000531525.2:c.404_405delinsCG ENSP00000434327.2:p.Arg135Pro
ENST00000533733.5:n.826_827delinsCG
ENST00000533733.6:n.1660_1661delinsCG
ENST00000675595.1:c.4232_4233delinsCG ENSP00000502563.1:p.Arg1411Pro
ENST00000683174.1:n.4547_4548delinsCG
ENST00000713593.1:c.*3868_*3869delinsCG ENSP00000518889.1:n.*3868_*3869delinsCG
XM_005271561.3:c.4397_4398delinsCG XP_005271618.2:p.Arg1466Pro
XM_005271562.3:c.4397_4398delinsCG XP_005271619.2:p.Arg1466Pro
XM_005271562.5:c.4397_4398delinsCG XP_005271619.2:p.Arg1466Pro
XM_006718843.2:c.4397_4398delinsCG XP_006718906.1:p.Arg1466Pro
XM_006718843.4:c.4397_4398delinsCG XP_006718906.1:p.Arg1466Pro
XM_006718845.1:c.353_354delinsCG XP_006718908.1:p.Arg118Pro
XM_006718845.2:c.353_354delinsCG XP_006718908.1:p.Arg118Pro
XM_011542840.1:c.4397_4398delinsCG XP_011541142.1:p.Arg1466Pro
XM_011542840.3:c.4397_4398delinsCG XP_011541142.1:p.Arg1466Pro
XM_011542841.1:c.4397_4398delinsCG XP_011541143.1:p.Arg1466Pro
XM_011542842.1:c.4232_4233delinsCG XP_011541144.1:p.Arg1411Pro
XM_011542842.3:c.4232_4233delinsCG XP_011541144.1:p.Arg1411Pro
XM_011542843.1:c.4397_4398delinsCG XP_011541145.1:p.Arg1466Pro
XM_011542843.2:c.4397_4398delinsCG XP_011541145.1:p.Arg1466Pro
XM_011542844.1:c.3353_3354delinsCG XP_011541146.1:p.Arg1118Pro
XM_011542844.3:c.3353_3354delinsCG XP_011541146.1:p.Arg1118Pro
XM_011542845.1:c.3089_3090delinsCG XP_011541147.1:p.Arg1030Pro
XM_011542845.2:c.3089_3090delinsCG XP_011541147.1:p.Arg1030Pro
XM_011542846.1:c.4397_4398delinsCG XP_011541148.1:p.Arg1466Pro
XM_017017789.2:c.4397_4398delinsCG XP_016873278.1:p.Arg1466Pro
XM_017017790.2:c.4397_4398delinsCG XP_016873279.1:p.Arg1466Pro
XM_017017791.1:c.4397_4398delinsCG XP_016873280.1:p.Arg1466Pro
XM_017017792.2:c.4397_4398delinsCG XP_016873281.1:p.Arg1466Pro
XR_002957150.1:n.5130_5131delinsCG