Canonical Allele Identifier: CA2695215234

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108258986_108259075del , CM000673.2:g.108258986_108259075del	GRCh38
NC_000011.9:g.108129713_108129802del , CM000673.1:g.108129713_108129802del	GRCh37
NC_000011.8:g.107634923_107635012del	NCBI36
NG_009830.1:g.41155_41244del , LRG_135:g.41155_41244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2377_2466del	ENSP00000388058.2:p.Lys793_Leu822del
ENST00000713593.1:c.*1848_*1937del	ENSP00000518889.1:n.*1848_*1937del
ENST00000278616.9:c.2377_2466del	ENSP00000278616.4:p.Lys793_Leu822del
ENST00000682516.1:n.2511_2600del
ENST00000683174.1:n.2527_2616del
ENST00000683605.1:n.1872_1961del
ENST00000684037.1:c.*1312_*1401del	ENSP00000508245.1:n.*1312_*1401del
ENST00000527805.6:c.2377_2466del	ENSP00000435747.2:p.Lys793_Leu822del
ENST00000675595.1:c.2212_2301del	ENSP00000502563.1:p.Lys738_Leu767del
ENST00000675843.1:c.2377_2466del MANE Select	ENSP00000501606.1:p.Lys793_Leu822del
ENST00000278616.8:c.2377_2466del	ENSP00000278616.4:p.Lys793_Leu822del
ENST00000452508.6:c.2377_2466del	ENSP00000388058.2:p.Lys793_Leu822del
ENST00000527805.5:c.2377_2466del	ENSP00000435747.1:p.Lys793_Leu822del
NM_000051.3:c.2377_2466del , LRG_135t1:c.2377_2466del	NP_000042.3:p.Lys793_Leu822del
XM_005271561.3:c.2377_2466del	XP_005271618.2:p.Lys793_Leu822del
XM_005271562.3:c.2377_2466del	XP_005271619.2:p.Lys793_Leu822del
XM_006718843.2:c.2377_2466del	XP_006718906.1:p.Lys793_Leu822del
XM_011542840.1:c.2377_2466del	XP_011541142.1:p.Lys793_Leu822del
XM_011542841.1:c.2377_2466del	XP_011541143.1:p.Lys793_Leu822del
XM_011542842.1:c.2212_2301del	XP_011541144.1:p.Lys738_Leu767del
XM_011542843.1:c.2377_2466del	XP_011541145.1:p.Lys793_Leu822del
XM_011542844.1:c.1333_1422del	XP_011541146.1:p.Lys445_Leu474del
XM_011542845.1:c.1069_1158del	XP_011541147.1:p.Lys357_Leu386del
XM_011542846.1:c.2377_2466del	XP_011541148.1:p.Lys793_Leu822del
NM_001351834.1:c.2377_2466del	NP_001338763.1:p.Lys793_Leu822del
XM_005271562.5:c.2377_2466del	XP_005271619.2:p.Lys793_Leu822del
XM_006718843.4:c.2377_2466del	XP_006718906.1:p.Lys793_Leu822del
XM_011542840.3:c.2377_2466del	XP_011541142.1:p.Lys793_Leu822del
XM_011542842.3:c.2212_2301del	XP_011541144.1:p.Lys738_Leu767del
XM_011542843.2:c.2377_2466del	XP_011541145.1:p.Lys793_Leu822del
XM_011542844.3:c.1333_1422del	XP_011541146.1:p.Lys445_Leu474del
XM_011542845.2:c.1069_1158del	XP_011541147.1:p.Lys357_Leu386del
XM_017017789.2:c.2377_2466del	XP_016873278.1:p.Lys793_Leu822del
XM_017017790.2:c.2377_2466del	XP_016873279.1:p.Lys793_Leu822del
XM_017017791.1:c.2377_2466del	XP_016873280.1:p.Lys793_Leu822del
XM_017017792.2:c.2377_2466del	XP_016873281.1:p.Lys793_Leu822del
XR_002957150.1:n.3110_3199del
NM_001351834.2:c.2377_2466del	NP_001338763.1:p.Lys793_Leu822del
NM_000051.4:c.2377_2466del MANE Select	NP_000042.3:p.Lys793_Leu822del