Canonical Allele Identifier: CA645597672

Gene: ATM

Linked Data

• COSMIC: COSM5611230 ; COSM5611231

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244998_108245000delinsAAT , CM000673.2:g.108244998_108245000delinsAAT	GRCh38
NC_000011.9:g.108115725_108115727delinsAAT , CM000673.1:g.108115725_108115727delinsAAT	GRCh37
NC_000011.8:g.107620935_107620937delinsAAT	NCBI36
NG_009830.1:g.27167_27169delinsAAT , LRG_135:g.27167_27169delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.873_875delinsAAT	ENSP00000388058.2:p.His291_Pro292delinsGlnMet
ENST00000713593.1:c.*344_*346delinsAAT	ENSP00000518889.1:n.*344_*346delinsAAT
ENST00000278616.9:c.873_875delinsAAT	ENSP00000278616.4:p.His291_Pro292delinsGlnMet
ENST00000682430.1:n.972_974delinsAAT
ENST00000682516.1:n.1007_1009delinsAAT
ENST00000682956.1:n.1007_1009delinsAAT
ENST00000683100.1:n.3220_3222delinsAAT
ENST00000683174.1:n.1023_1025delinsAAT
ENST00000683605.1:n.368_370delinsAAT
ENST00000684037.1:c.873_875delinsAAT	ENSP00000508245.1:p.His291_Pro292delinsGlnMet
ENST00000684061.1:n.1007_1009delinsAAT
ENST00000684179.1:n.842_844delinsAAT
ENST00000527805.6:c.873_875delinsAAT	ENSP00000435747.2:p.His291_Pro292delinsGlnMet
ENST00000675595.1:c.708_710delinsAAT	ENSP00000502563.1:p.His236_Pro237delinsGlnMet
ENST00000675843.1:c.873_875delinsAAT MANE Select	ENSP00000501606.1:p.His291_Pro292delinsGlnMet
ENST00000278616.8:c.873_875delinsAAT	ENSP00000278616.4:p.His291_Pro292delinsGlnMet
ENST00000452508.6:c.873_875delinsAAT	ENSP00000388058.2:p.His291_Pro292delinsGlnMet
ENST00000527805.5:c.873_875delinsAAT	ENSP00000435747.1:p.His291_Pro292delinsGlnMet
NM_000051.3:c.873_875delinsAAT , LRG_135t1:c.873_875delinsAAT	NP_000042.3:p.His291_Pro292delinsGlnMet
XM_005271561.3:c.873_875delinsAAT	XP_005271618.2:p.His291_Pro292delinsGlnMet
XM_005271562.3:c.873_875delinsAAT	XP_005271619.2:p.His291_Pro292delinsGlnMet
XM_006718843.2:c.873_875delinsAAT	XP_006718906.1:p.His291_Pro292delinsGlnMet
XM_011542840.1:c.873_875delinsAAT	XP_011541142.1:p.His291_Pro292delinsGlnMet
XM_011542841.1:c.873_875delinsAAT	XP_011541143.1:p.His291_Pro292delinsGlnMet
XM_011542842.1:c.708_710delinsAAT	XP_011541144.1:p.His236_Pro237delinsGlnMet
XM_011542843.1:c.873_875delinsAAT	XP_011541145.1:p.His291_Pro292delinsGlnMet
XM_011542844.1:c.-172_-170delinsAAT	XP_011541146.1:n.-172_-170delinsAAT
XM_011542846.1:c.873_875delinsAAT	XP_011541148.1:p.His291_Pro292delinsGlnMet
NM_001351834.1:c.873_875delinsAAT	NP_001338763.1:p.His291_Pro292delinsGlnMet
XM_005271562.5:c.873_875delinsAAT	XP_005271619.2:p.His291_Pro292delinsGlnMet
XM_006718843.4:c.873_875delinsAAT	XP_006718906.1:p.His291_Pro292delinsGlnMet
XM_011542840.3:c.873_875delinsAAT	XP_011541142.1:p.His291_Pro292delinsGlnMet
XM_011542842.3:c.708_710delinsAAT	XP_011541144.1:p.His236_Pro237delinsGlnMet
XM_011542843.2:c.873_875delinsAAT	XP_011541145.1:p.His291_Pro292delinsGlnMet
XM_011542844.3:c.-172_-170delinsAAT	XP_011541146.1:n.-172_-170delinsAAT
XM_017017789.2:c.873_875delinsAAT	XP_016873278.1:p.His291_Pro292delinsGlnMet
XM_017017790.2:c.873_875delinsAAT	XP_016873279.1:p.His291_Pro292delinsGlnMet
XM_017017791.1:c.873_875delinsAAT	XP_016873280.1:p.His291_Pro292delinsGlnMet
XM_017017792.2:c.873_875delinsAAT	XP_016873281.1:p.His291_Pro292delinsGlnMet
XR_002957150.1:n.1606_1608delinsAAT
NM_001351834.2:c.873_875delinsAAT	NP_001338763.1:p.His291_Pro292delinsGlnMet
NM_000051.4:c.873_875delinsAAT MANE Select	NP_000042.3:p.His291_Pro292delinsGlnMet