Canonical Allele Identifier: CA2615845946

Gene: ATM

Linked Data

• gnomAD v4: 11-108223223-G-GCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108223223_108223224insCA , CM000673.2:g.108223223_108223224insCA	GRCh38
NC_000011.9:g.108093950_108093951insCA , CM000673.1:g.108093950_108093951insCA	GRCh37
NC_000011.8:g.107599160_107599161insCA	NCBI36
NG_009830.1:g.5392_5393insCA , LRG_135:g.5392_5393insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.-119+37_-119+38insCA	ENSP00000388058.2:n.-119+37_-119+38insCA
ENST00000683914.2:c.-31+37_-31+38insCA	ENSP00000507649.1:n.-31+37_-31+38insCA
ENST00000713593.1:c.-31+37_-31+38insCA	ENSP00000518889.1:n.-31+37_-31+38insCA
ENST00000683150.1:c.-182+37_-182+38insCA	ENSP00000507125.1:n.-182+37_-182+38insCA
ENST00000683174.1:n.120+37_120+38insCA
ENST00000683468.1:c.-4402_-4401insCA	ENSP00000508178.1:n.-4402_-4401insCA
ENST00000683488.1:n.180_181insCA
ENST00000683914.1:c.-31+37_-31+38insCA	ENSP00000507649.1:n.-31+37_-31+38insCA
ENST00000527805.6:c.-31+37_-31+38insCA	ENSP00000435747.2:n.-31+37_-31+38insCA
ENST00000639240.1:c.-115+37_-115+38insCA	ENSP00000491585.1:n.-115+37_-115+38insCA
ENST00000639953.1:c.-203+37_-203+38insCA	ENSP00000492487.1:n.-203+37_-203+38insCA
ENST00000640388.1:c.-193+37_-193+38insCA	ENSP00000492354.1:n.-193+37_-193+38insCA
ENST00000675595.1:c.-31+37_-31+38insCA	ENSP00000502563.1:n.-31+37_-31+38insCA
ENST00000675843.1:c.-31+37_-31+38insCA MANE Select	ENSP00000501606.1:n.-31+37_-31+38insCA
ENST00000278616.8:c.-31+37_-31+38insCA	ENSP00000278616.4:n.-31+37_-31+38insCA
ENST00000452508.6:c.-119+37_-119+38insCA	ENSP00000388058.2:n.-119+37_-119+38insCA
ENST00000527805.5:c.-31+37_-31+38insCA	ENSP00000435747.1:n.-31+37_-31+38insCA
ENST00000527891.5:c.-31+37_-31+38insCA	ENSP00000433955.1:n.-31+37_-31+38insCA
ENST00000530958.5:c.-4402_-4401insCA	ENSP00000483338.1:n.-4402_-4401insCA
ENST00000532931.5:c.-105+37_-105+38insCA	ENSP00000432318.1:n.-105+37_-105+38insCA
NM_000051.3:c.-31+37_-31+38insCA , LRG_135t1:c.-31+37_-31+38insCA	NP_000042.3:n.-31+37_-31+38insCA
XM_005271561.3:c.-119+37_-119+38insCA	XP_005271618.2:n.-119+37_-119+38insCA
XM_005271562.3:c.-494_-493insCA	XP_005271619.2:n.-494_-493insCA
XM_011542841.1:c.-822+37_-822+38insCA	XP_011541143.1:n.-822+37_-822+38insCA
XM_011542842.1:c.-31+37_-31+38insCA	XP_011541144.1:n.-31+37_-31+38insCA
XM_011542843.1:c.-31+37_-31+38insCA	XP_011541145.1:n.-31+37_-31+38insCA
XM_011542846.1:c.-31+37_-31+38insCA	XP_011541148.1:n.-31+37_-31+38insCA
NM_001351834.1:c.-119+37_-119+38insCA	NP_001338763.1:n.-119+37_-119+38insCA
NM_001351835.1:c.-31+37_-31+38insCA	NP_001338764.1:n.-31+37_-31+38insCA
XM_005271562.5:c.-494_-493insCA	XP_005271619.2:n.-494_-493insCA
XM_011542842.3:c.-31+37_-31+38insCA	XP_011541144.1:n.-31+37_-31+38insCA
XM_011542843.2:c.-31+37_-31+38insCA	XP_011541145.1:n.-31+37_-31+38insCA
XM_011542844.3:c.-1053+37_-1053+38insCA	XP_011541146.1:n.-1053+37_-1053+38insCA
XM_017017791.1:c.-31+37_-31+38insCA	XP_016873280.1:n.-31+37_-31+38insCA
XM_017017792.2:c.-31+37_-31+38insCA	XP_016873281.1:n.-31+37_-31+38insCA
XR_002957150.1:n.703+37_703+38insCA
NM_001351834.2:c.-119+37_-119+38insCA	NP_001338763.1:n.-119+37_-119+38insCA
NM_000051.4:c.-31+37_-31+38insCA MANE Select	NP_000042.3:n.-31+37_-31+38insCA
NM_001351835.2:c.-31+37_-31+38insCA	NP_001338764.1:n.-31+37_-31+38insCA