Canonical Allele Identifier: CA1998784742
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289587_108289589delinsCTG , CM000673.2:g.108289587_108289589delinsCTG GRCh38
NC_000011.9:g.108160314_108160316delinsCTG , CM000673.1:g.108160314_108160316delinsCTG GRCh37
NC_000011.8:g.107665524_107665526delinsCTG NCBI36
NG_009830.1:g.71756_71758delinsCTG , LRG_135:g.71756_71758delinsCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.4237-15_4237-13delinsCTG ENSP00000388058.2:n.4237-15_4237-13delins...
ENST00000713593.1:c.*3708-15_*3708-13delinsCTG ENSP00000518889.1:n.*3708-15_*3708-13deli...
ENST00000278616.9:c.4237-15_4237-13delinsCTG ENSP00000278616.4:n.4237-15_4237-13delins...
ENST00000533733.6:n.1500-15_1500-13delinsCTG
ENST00000683174.1:n.4387-15_4387-13delinsCTG
ENST00000527805.6:c.4237-15_4237-13delinsCTG ENSP00000435747.2:n.4237-15_4237-13delins...
ENST00000675595.1:c.4072-15_4072-13delinsCTG ENSP00000502563.1:n.4072-15_4072-13delins...
ENST00000675843.1:c.4237-15_4237-13delinsCTG MANE Select ENSP00000501606.1:n.4237-15_4237-13delins...
ENST00000278616.8:c.4237-15_4237-13delinsCTG ENSP00000278616.4:n.4237-15_4237-13delins...
ENST00000452508.6:c.4237-15_4237-13delinsCTG ENSP00000388058.2:n.4237-15_4237-13delins...
ENST00000524792.5:n.452-15_452-13delinsCTG
ENST00000531525.2:c.244-15_244-13delinsCTG ENSP00000434327.2:n.244-15_244-13delinsCT...
ENST00000533733.5:n.666-15_666-13delinsCTG
NM_000051.3:c.4237-15_4237-13delinsCTG , LRG_135t1:c.4237-15_4237-13delinsCTG NP_000042.3:n.4237-15_4237-13delinsCTG
XM_005271561.3:c.4237-15_4237-13delinsCTG XP_005271618.2:n.4237-15_4237-13delinsCTG...
XM_005271562.3:c.4237-15_4237-13delinsCTG XP_005271619.2:n.4237-15_4237-13delinsCTG...
XM_006718843.2:c.4237-15_4237-13delinsCTG XP_006718906.1:n.4237-15_4237-13delinsCTG...
XM_006718845.1:c.193-15_193-13delinsCTG XP_006718908.1:n.193-15_193-13delinsCTG
XM_011542840.1:c.4237-15_4237-13delinsCTG XP_011541142.1:n.4237-15_4237-13delinsCTG...
XM_011542841.1:c.4237-15_4237-13delinsCTG XP_011541143.1:n.4237-15_4237-13delinsCTG...
XM_011542842.1:c.4072-15_4072-13delinsCTG XP_011541144.1:n.4072-15_4072-13delinsCTG...
XM_011542843.1:c.4237-15_4237-13delinsCTG XP_011541145.1:n.4237-15_4237-13delinsCTG...
XM_011542844.1:c.3193-15_3193-13delinsCTG XP_011541146.1:n.3193-15_3193-13delinsCTG...
XM_011542845.1:c.2929-15_2929-13delinsCTG XP_011541147.1:n.2929-15_2929-13delinsCTG...
XM_011542846.1:c.4237-15_4237-13delinsCTG XP_011541148.1:n.4237-15_4237-13delinsCTG...
NM_001351834.1:c.4237-15_4237-13delinsCTG NP_001338763.1:n.4237-15_4237-13delinsCTG...
XM_005271562.5:c.4237-15_4237-13delinsCTG XP_005271619.2:n.4237-15_4237-13delinsCTG...
XM_006718843.4:c.4237-15_4237-13delinsCTG XP_006718906.1:n.4237-15_4237-13delinsCTG...
XM_006718845.2:c.193-15_193-13delinsCTG XP_006718908.1:n.193-15_193-13delinsCTG
XM_011542840.3:c.4237-15_4237-13delinsCTG XP_011541142.1:n.4237-15_4237-13delinsCTG...
XM_011542842.3:c.4072-15_4072-13delinsCTG XP_011541144.1:n.4072-15_4072-13delinsCTG...
XM_011542843.2:c.4237-15_4237-13delinsCTG XP_011541145.1:n.4237-15_4237-13delinsCTG...
XM_011542844.3:c.3193-15_3193-13delinsCTG XP_011541146.1:n.3193-15_3193-13delinsCTG...
XM_011542845.2:c.2929-15_2929-13delinsCTG XP_011541147.1:n.2929-15_2929-13delinsCTG...
XM_017017789.2:c.4237-15_4237-13delinsCTG XP_016873278.1:n.4237-15_4237-13delinsCTG...
XM_017017790.2:c.4237-15_4237-13delinsCTG XP_016873279.1:n.4237-15_4237-13delinsCTG...
XM_017017791.1:c.4237-15_4237-13delinsCTG XP_016873280.1:n.4237-15_4237-13delinsCTG...
XM_017017792.2:c.4237-15_4237-13delinsCTG XP_016873281.1:n.4237-15_4237-13delinsCTG...
XR_002957150.1:n.4970-15_4970-13delinsCTG
NM_001351834.2:c.4237-15_4237-13delinsCTG NP_001338763.1:n.4237-15_4237-13delinsCTG...
NM_000051.4:c.4237-15_4237-13delinsCTG MANE Select NP_000042.3:n.4237-15_4237-13delinsCTG