Canonical Allele Identifier: CA2725177981
Gene: ATM HGNC NCBI

Linked Data

dbSNP Id: rs2135738757

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108287743_108287744insCC , CM000673.2:g.108287743_108287744insCC GRCh38
NC_000011.9:g.108158470_108158471insCC , CM000673.1:g.108158470_108158471insCC GRCh37
NC_000011.8:g.107663680_107663681insCC NCBI36
NG_009830.1:g.69912_69913insCC , LRG_135:g.69912_69913insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.4109+28_4109+29insCC ENSP00000388058.2:n.4109+28_4109+29insCC
ENST00000713593.1:c.*3580+28_*3580+29insCC ENSP00000518889.1:n.*3580+28_*3580+29insCC
ENST00000278616.9:c.4109+28_4109+29insCC ENSP00000278616.4:n.4109+28_4109+29insCC
ENST00000533733.6:n.1372+28_1372+29insCC
ENST00000683174.1:n.4259+28_4259+29insCC
ENST00000527805.6:c.4109+28_4109+29insCC ENSP00000435747.2:n.4109+28_4109+29insCC
ENST00000675595.1:c.3944+28_3944+29insCC ENSP00000502563.1:n.3944+28_3944+29insCC
ENST00000675843.1:c.4109+28_4109+29insCC MANE Select ENSP00000501606.1:n.4109+28_4109+29insCC
ENST00000278616.8:c.4109+28_4109+29insCC ENSP00000278616.4:n.4109+28_4109+29insCC
ENST00000452508.6:c.4109+28_4109+29insCC ENSP00000388058.2:n.4109+28_4109+29insCC
ENST00000524792.5:n.324+28_324+29insCC
ENST00000531525.2:c.116+28_116+29insCC ENSP00000434327.2:n.116+28_116+29insCC
ENST00000533733.5:n.538+28_538+29insCC
NM_000051.3:c.4109+28_4109+29insCC , LRG_135t1:c.4109+28_4109+29insCC NP_000042.3:n.4109+28_4109+29insCC
XM_005271561.3:c.4109+28_4109+29insCC XP_005271618.2:n.4109+28_4109+29insCC
XM_005271562.3:c.4109+28_4109+29insCC XP_005271619.2:n.4109+28_4109+29insCC
XM_006718843.2:c.4109+28_4109+29insCC XP_006718906.1:n.4109+28_4109+29insCC
XM_006718845.1:c.65+28_65+29insCC XP_006718908.1:n.65+28_65+29insCC
XM_011542840.1:c.4109+28_4109+29insCC XP_011541142.1:n.4109+28_4109+29insCC
XM_011542841.1:c.4109+28_4109+29insCC XP_011541143.1:n.4109+28_4109+29insCC
XM_011542842.1:c.3944+28_3944+29insCC XP_011541144.1:n.3944+28_3944+29insCC
XM_011542843.1:c.4109+28_4109+29insCC XP_011541145.1:n.4109+28_4109+29insCC
XM_011542844.1:c.3065+28_3065+29insCC XP_011541146.1:n.3065+28_3065+29insCC
XM_011542845.1:c.2801+28_2801+29insCC XP_011541147.1:n.2801+28_2801+29insCC
XM_011542846.1:c.4109+28_4109+29insCC XP_011541148.1:n.4109+28_4109+29insCC
NM_001351834.1:c.4109+28_4109+29insCC NP_001338763.1:n.4109+28_4109+29insCC
XM_005271562.5:c.4109+28_4109+29insCC XP_005271619.2:n.4109+28_4109+29insCC
XM_006718843.4:c.4109+28_4109+29insCC XP_006718906.1:n.4109+28_4109+29insCC
XM_006718845.2:c.65+28_65+29insCC XP_006718908.1:n.65+28_65+29insCC
XM_011542840.3:c.4109+28_4109+29insCC XP_011541142.1:n.4109+28_4109+29insCC
XM_011542842.3:c.3944+28_3944+29insCC XP_011541144.1:n.3944+28_3944+29insCC
XM_011542843.2:c.4109+28_4109+29insCC XP_011541145.1:n.4109+28_4109+29insCC
XM_011542844.3:c.3065+28_3065+29insCC XP_011541146.1:n.3065+28_3065+29insCC
XM_011542845.2:c.2801+28_2801+29insCC XP_011541147.1:n.2801+28_2801+29insCC
XM_017017789.2:c.4109+28_4109+29insCC XP_016873278.1:n.4109+28_4109+29insCC
XM_017017790.2:c.4109+28_4109+29insCC XP_016873279.1:n.4109+28_4109+29insCC
XM_017017791.1:c.4109+28_4109+29insCC XP_016873280.1:n.4109+28_4109+29insCC
XM_017017792.2:c.4109+28_4109+29insCC XP_016873281.1:n.4109+28_4109+29insCC
XR_002957150.1:n.4842+28_4842+29insCC
NM_001351834.2:c.4109+28_4109+29insCC NP_001338763.1:n.4109+28_4109+29insCC
NM_000051.4:c.4109+28_4109+29insCC MANE Select NP_000042.3:n.4109+28_4109+29insCC