Canonical Allele Identifier: CA1998799714

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302884_108302888delinsACCCT , CM000673.2:g.108302884_108302888delinsACCCT	GRCh38
NC_000011.9:g.108173611_108173615delinsACCCT , CM000673.1:g.108173611_108173615delinsACCCT	GRCh37
NC_000011.8:g.107678821_107678825delinsACCCT	NCBI36
NG_009830.1:g.85053_85057delinsACCCT , LRG_135:g.85053_85057delinsACCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5351_5355delinsACCCT	ENSP00000388058.2:p.Asn1784=
ENST00000713593.1:c.*4822_*4826delinsACCCT	ENSP00000518889.1:n.*4822_*4826delinsACCC...
ENST00000278616.9:c.5351_5355delinsACCCT	ENSP00000278616.4:p.Asn1784=
ENST00000683174.1:n.6835_6839delinsACCCT
ENST00000683524.1:n.575_579delinsACCCT
ENST00000684152.1:n.1065_1069delinsACCCT
ENST00000527805.6:c.*415_*419delinsACCCT	ENSP00000435747.2:n.*415_*419delinsACCCT
ENST00000675595.1:c.*415_*419delinsACCCT	ENSP00000502563.1:n.*415_*419delinsACCCT
ENST00000675843.1:c.5351_5355delinsACCCT MANE Select	ENSP00000501606.1:p.Asn1784=
ENST00000278616.8:c.5351_5355delinsACCCT	ENSP00000278616.4:p.Asn1784=
ENST00000452508.6:c.5351_5355delinsACCCT	ENSP00000388058.2:p.Asn1784=
ENST00000524792.5:n.1566_1570delinsACCCT
ENST00000533690.5:n.755_759delinsACCCT
ENST00000534625.1:n.580_584delinsACCCT
NM_000051.3:c.5351_5355delinsACCCT , LRG_135t1:c.5351_5355delinsACCCT	NP_000042.3:p.Asn1784=
XM_005271561.3:c.5351_5355delinsACCCT	XP_005271618.2:p.Asn1784=
XM_005271562.3:c.5351_5355delinsACCCT	XP_005271619.2:p.Asn1784=
XM_006718843.2:c.5351_5355delinsACCCT	XP_006718906.1:p.Asn1784=
XM_006718845.1:c.1307_1311delinsACCCT	XP_006718908.1:p.Asn436=
XM_011542840.1:c.5351_5355delinsACCCT	XP_011541142.1:p.Asn1784=
XM_011542841.1:c.5351_5355delinsACCCT	XP_011541143.1:p.Asn1784=
XM_011542842.1:c.5186_5190delinsACCCT	XP_011541144.1:p.Asn1729=
XM_011542843.1:c.5351_5355delinsACCCT	XP_011541145.1:p.Asn1784=
XM_011542844.1:c.4307_4311delinsACCCT	XP_011541146.1:p.Asn1436=
XM_011542845.1:c.4043_4047delinsACCCT	XP_011541147.1:p.Asn1348=
XM_011542846.1:c.*9_*13delinsACCCT	XP_011541148.1:n.*9_*13delinsACCCT
XM_011542847.1:c.422_426delinsACCCT	XP_011541149.1:p.Asn141=
NM_001351834.1:c.5351_5355delinsACCCT	NP_001338763.1:p.Asn1784=
XM_005271562.5:c.5351_5355delinsACCCT	XP_005271619.2:p.Asn1784=
XM_006718843.4:c.5351_5355delinsACCCT	XP_006718906.1:p.Asn1784=
XM_006718845.2:c.1307_1311delinsACCCT	XP_006718908.1:p.Asn436=
XM_011542840.3:c.5351_5355delinsACCCT	XP_011541142.1:p.Asn1784=
XM_011542842.3:c.5186_5190delinsACCCT	XP_011541144.1:p.Asn1729=
XM_011542843.2:c.5351_5355delinsACCCT	XP_011541145.1:p.Asn1784=
XM_011542844.3:c.4307_4311delinsACCCT	XP_011541146.1:p.Asn1436=
XM_011542845.2:c.4043_4047delinsACCCT	XP_011541147.1:p.Asn1348=
XM_017017789.2:c.5351_5355delinsACCCT	XP_016873278.1:p.Asn1784=
XM_017017790.2:c.5351_5355delinsACCCT	XP_016873279.1:p.Asn1784=
XM_017017791.1:c.5351_5355delinsACCCT	XP_016873280.1:p.Asn1784=
XM_017017792.2:c.*32_*36delinsACCCT	XP_016873281.1:n.*32_*36delinsACCCT
XR_002957150.1:n.5951_5955delinsACCCT
NM_001351834.2:c.5351_5355delinsACCCT	NP_001338763.1:p.Asn1784=
NM_000051.4:c.5351_5355delinsACCCT MANE Select	NP_000042.3:p.Asn1784=