Canonical Allele Identifier: CA2695215328

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223192_108223194delinsTGT , CM000673.2:g.108223192_108223194delinsTGT	GRCh38
NC_000011.9:g.108093919_108093921delinsTGT , CM000673.1:g.108093919_108093921delinsTGT	GRCh37
NC_000011.8:g.107599129_107599131delinsTGT	NCBI36
NG_009830.1:g.5361_5363delinsTGT , LRG_135:g.5361_5363delinsTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-119+6_-119+8delinsTGT	ENSP00000388058.2:n.-119+6_-119+8delinsTGT
ENST00000683914.2:c.-31+6_-31+8delinsTGT	ENSP00000507649.1:n.-31+6_-31+8delinsTGT
ENST00000713593.1:c.-31+6_-31+8delinsTGT	ENSP00000518889.1:n.-31+6_-31+8delinsTGT
ENST00000683150.1:c.-182+6_-182+8delinsTGT	ENSP00000507125.1:n.-182+6_-182+8delinsTGT
ENST00000683174.1:n.120+6_120+8delinsTGT
ENST00000683468.1:c.-4433_-4431delinsTGT	ENSP00000508178.1:n.-4433_-4431delinsTGT
ENST00000683488.1:n.149_151delinsTGT
ENST00000683914.1:c.-31+6_-31+8delinsTGT	ENSP00000507649.1:n.-31+6_-31+8delinsTGT
ENST00000527805.6:c.-31+6_-31+8delinsTGT	ENSP00000435747.2:n.-31+6_-31+8delinsTGT
ENST00000639240.1:c.-115+6_-115+8delinsTGT	ENSP00000491585.1:n.-115+6_-115+8delinsTGT
ENST00000639953.1:c.-203+6_-203+8delinsTGT	ENSP00000492487.1:n.-203+6_-203+8delinsTGT
ENST00000640388.1:c.-193+6_-193+8delinsTGT	ENSP00000492354.1:n.-193+6_-193+8delinsTGT
ENST00000675595.1:c.-31+6_-31+8delinsTGT	ENSP00000502563.1:n.-31+6_-31+8delinsTGT
ENST00000675843.1:c.-31+6_-31+8delinsTGT MANE Select	ENSP00000501606.1:n.-31+6_-31+8delinsTGT
ENST00000278616.8:c.-31+6_-31+8delinsTGT	ENSP00000278616.4:n.-31+6_-31+8delinsTGT
ENST00000452508.6:c.-119+6_-119+8delinsTGT	ENSP00000388058.2:n.-119+6_-119+8delinsTGT
ENST00000527805.5:c.-31+6_-31+8delinsTGT	ENSP00000435747.1:n.-31+6_-31+8delinsTGT
ENST00000527891.5:c.-31+6_-31+8delinsTGT	ENSP00000433955.1:n.-31+6_-31+8delinsTGT
ENST00000530958.5:c.-4433_-4431delinsTGT	ENSP00000483338.1:n.-4433_-4431delinsTGT
ENST00000532931.5:c.-105+6_-105+8delinsTGT	ENSP00000432318.1:n.-105+6_-105+8delinsTGT
NM_000051.3:c.-31+6_-31+8delinsTGT , LRG_135t1:c.-31+6_-31+8delinsTGT	NP_000042.3:n.-31+6_-31+8delinsTGT
XM_005271561.3:c.-119+6_-119+8delinsTGT	XP_005271618.2:n.-119+6_-119+8delinsTGT
XM_011542841.1:c.-822+6_-822+8delinsTGT	XP_011541143.1:n.-822+6_-822+8delinsTGT
XM_011542842.1:c.-31+6_-31+8delinsTGT	XP_011541144.1:n.-31+6_-31+8delinsTGT
XM_011542843.1:c.-31+6_-31+8delinsTGT	XP_011541145.1:n.-31+6_-31+8delinsTGT
XM_011542846.1:c.-31+6_-31+8delinsTGT	XP_011541148.1:n.-31+6_-31+8delinsTGT
NM_001351834.1:c.-119+6_-119+8delinsTGT	NP_001338763.1:n.-119+6_-119+8delinsTGT
NM_001351835.1:c.-31+6_-31+8delinsTGT	NP_001338764.1:n.-31+6_-31+8delinsTGT
XM_011542842.3:c.-31+6_-31+8delinsTGT	XP_011541144.1:n.-31+6_-31+8delinsTGT
XM_011542843.2:c.-31+6_-31+8delinsTGT	XP_011541145.1:n.-31+6_-31+8delinsTGT
XM_011542844.3:c.-1053+6_-1053+8delinsTGT	XP_011541146.1:n.-1053+6_-1053+8delinsTGT
XM_017017791.1:c.-31+6_-31+8delinsTGT	XP_016873280.1:n.-31+6_-31+8delinsTGT
XM_017017792.2:c.-31+6_-31+8delinsTGT	XP_016873281.1:n.-31+6_-31+8delinsTGT
XR_002957150.1:n.703+6_703+8delinsTGT
NM_001351834.2:c.-119+6_-119+8delinsTGT	NP_001338763.1:n.-119+6_-119+8delinsTGT
NM_000051.4:c.-31+6_-31+8delinsTGT MANE Select	NP_000042.3:n.-31+6_-31+8delinsTGT
NM_001351835.2:c.-31+6_-31+8delinsTGT	NP_001338764.1:n.-31+6_-31+8delinsTGT