Canonical Allele Identifier: CA645597669

Gene: ATM

Linked Data

• COSMIC: COSM22494

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243960_108243965del , CM000673.2:g.108243960_108243965del	GRCh38
NC_000011.9:g.108114687_108114692del , CM000673.1:g.108114687_108114692del	GRCh37
NC_000011.8:g.107619897_107619902del	NCBI36
NG_009830.1:g.26129_26134del , LRG_135:g.26129_26134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.504_509del	ENSP00000388058.2:p.Phe168_Val170delinsLeu
ENST00000713593.1:c.497-15_497-10del	ENSP00000518889.1:n.497-15_497-10del
ENST00000278616.9:c.504_509del	ENSP00000278616.4:p.Phe168_Val170delinsLeu
ENST00000682430.1:n.603_608del
ENST00000682516.1:n.638_643del
ENST00000682956.1:n.638_643del
ENST00000683100.1:n.2182_2187del
ENST00000683174.1:n.654_659del
ENST00000684037.1:c.504_509del	ENSP00000508245.1:p.Phe168_Val170delinsLeu
ENST00000684061.1:n.638_643del
ENST00000684179.1:n.473_478del
ENST00000527805.6:c.504_509del	ENSP00000435747.2:p.Phe168_Val170delinsLeu
ENST00000675595.1:c.339_344del	ENSP00000502563.1:p.Phe113_Val115delinsLeu
ENST00000675843.1:c.504_509del MANE Select	ENSP00000501606.1:p.Phe168_Val170delinsLeu
ENST00000278616.8:c.504_509del	ENSP00000278616.4:p.Phe168_Val170delinsLeu
ENST00000452508.6:c.504_509del	ENSP00000388058.2:p.Phe168_Val170delinsLeu
ENST00000527805.5:c.504_509del	ENSP00000435747.1:p.Phe168_Val170delinsLeu
ENST00000527891.5:c.339_344del	ENSP00000433955.1:p.Phe113_Val115delinsLeu
NM_000051.3:c.504_509del , LRG_135t1:c.504_509del	NP_000042.3:p.Phe168_Val170delinsLeu
XM_005271561.3:c.504_509del	XP_005271618.2:p.Phe168_Val170delinsLeu
XM_005271562.3:c.504_509del	XP_005271619.2:p.Phe168_Val170delinsLeu
XM_006718843.2:c.504_509del	XP_006718906.1:p.Phe168_Val170delinsLeu
XM_011542840.1:c.504_509del	XP_011541142.1:p.Phe168_Val170delinsLeu
XM_011542841.1:c.504_509del	XP_011541143.1:p.Phe168_Val170delinsLeu
XM_011542842.1:c.339_344del	XP_011541144.1:p.Phe113_Val115delinsLeu
XM_011542843.1:c.504_509del	XP_011541145.1:p.Phe168_Val170delinsLeu
XM_011542844.1:c.-526-15_-526-10del	XP_011541146.1:n.-526-15_-526-10del
XM_011542846.1:c.504_509del	XP_011541148.1:p.Phe168_Val170delinsLeu
NM_001351834.1:c.504_509del	NP_001338763.1:p.Phe168_Val170delinsLeu
XM_005271562.5:c.504_509del	XP_005271619.2:p.Phe168_Val170delinsLeu
XM_006718843.4:c.504_509del	XP_006718906.1:p.Phe168_Val170delinsLeu
XM_011542840.3:c.504_509del	XP_011541142.1:p.Phe168_Val170delinsLeu
XM_011542842.3:c.339_344del	XP_011541144.1:p.Phe113_Val115delinsLeu
XM_011542843.2:c.504_509del	XP_011541145.1:p.Phe168_Val170delinsLeu
XM_011542844.3:c.-526-15_-526-10del	XP_011541146.1:n.-526-15_-526-10del
XM_017017789.2:c.504_509del	XP_016873278.1:p.Phe168_Val170delinsLeu
XM_017017790.2:c.504_509del	XP_016873279.1:p.Phe168_Val170delinsLeu
XM_017017791.1:c.504_509del	XP_016873280.1:p.Phe168_Val170delinsLeu
XM_017017792.2:c.504_509del	XP_016873281.1:p.Phe168_Val170delinsLeu
XR_002957150.1:n.1237_1242del
NM_001351834.2:c.504_509del	NP_001338763.1:p.Phe168_Val170delinsLeu
NM_000051.4:c.504_509del MANE Select	NP_000042.3:p.Phe168_Val170delinsLeu