Canonical Allele Identifier: CA2580083791

Gene: ATM

Linked Data

• ClinVar Variation Id: 1776546
• ClinVar RCV Id: RCV002394872

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251848_108251849delinsAA , CM000673.2:g.108251848_108251849delinsAA	GRCh38
NC_000011.9:g.108122575_108122576delinsAA , CM000673.1:g.108122575_108122576delinsAA	GRCh37
NC_000011.8:g.107627785_107627786delinsAA	NCBI36
NG_009830.1:g.34017_34018delinsAA , LRG_135:g.34017_34018delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1619_1620delinsAA	ENSP00000388058.2:p.Cys540Ter
ENST00000713593.1:c.*1090_*1091delinsAA	ENSP00000518889.1:n.*1090_*1091delinsAA
ENST00000278616.9:c.1619_1620delinsAA	ENSP00000278616.4:p.Cys540Ter
ENST00000682516.1:n.1753_1754delinsAA
ENST00000683174.1:n.1769_1770delinsAA
ENST00000683605.1:n.1114_1115delinsAA
ENST00000684037.1:c.*554_*555delinsAA	ENSP00000508245.1:n.*554_*555delinsAA
ENST00000684061.1:n.1753_1754delinsAA
ENST00000527805.6:c.1619_1620delinsAA	ENSP00000435747.2:p.Cys540Ter
ENST00000675595.1:c.1454_1455delinsAA	ENSP00000502563.1:p.Cys485Ter
ENST00000675843.1:c.1619_1620delinsAA MANE Select	ENSP00000501606.1:p.Cys540Ter
ENST00000278616.8:c.1619_1620delinsAA	ENSP00000278616.4:p.Cys540Ter
ENST00000452508.6:c.1619_1620delinsAA	ENSP00000388058.2:p.Cys540Ter
ENST00000527805.5:c.1619_1620delinsAA	ENSP00000435747.1:p.Cys540Ter
NM_000051.3:c.1619_1620delinsAA , LRG_135t1:c.1619_1620delinsAA	NP_000042.3:p.Cys540Ter
XM_005271561.3:c.1619_1620delinsAA	XP_005271618.2:p.Cys540Ter
XM_005271562.3:c.1619_1620delinsAA	XP_005271619.2:p.Cys540Ter
XM_006718843.2:c.1619_1620delinsAA	XP_006718906.1:p.Cys540Ter
XM_011542840.1:c.1619_1620delinsAA	XP_011541142.1:p.Cys540Ter
XM_011542841.1:c.1619_1620delinsAA	XP_011541143.1:p.Cys540Ter
XM_011542842.1:c.1454_1455delinsAA	XP_011541144.1:p.Cys485Ter
XM_011542843.1:c.1619_1620delinsAA	XP_011541145.1:p.Cys540Ter
XM_011542844.1:c.575_576delinsAA	XP_011541146.1:p.Cys192Ter
XM_011542845.1:c.311_312delinsAA	XP_011541147.1:p.Cys104Ter
XM_011542846.1:c.1619_1620delinsAA	XP_011541148.1:p.Cys540Ter
NM_001351834.1:c.1619_1620delinsAA	NP_001338763.1:p.Cys540Ter
XM_005271562.5:c.1619_1620delinsAA	XP_005271619.2:p.Cys540Ter
XM_006718843.4:c.1619_1620delinsAA	XP_006718906.1:p.Cys540Ter
XM_011542840.3:c.1619_1620delinsAA	XP_011541142.1:p.Cys540Ter
XM_011542842.3:c.1454_1455delinsAA	XP_011541144.1:p.Cys485Ter
XM_011542843.2:c.1619_1620delinsAA	XP_011541145.1:p.Cys540Ter
XM_011542844.3:c.575_576delinsAA	XP_011541146.1:p.Cys192Ter
XM_011542845.2:c.311_312delinsAA	XP_011541147.1:p.Cys104Ter
XM_017017789.2:c.1619_1620delinsAA	XP_016873278.1:p.Cys540Ter
XM_017017790.2:c.1619_1620delinsAA	XP_016873279.1:p.Cys540Ter
XM_017017791.1:c.1619_1620delinsAA	XP_016873280.1:p.Cys540Ter
XM_017017792.2:c.1619_1620delinsAA	XP_016873281.1:p.Cys540Ter
XR_002957150.1:n.2352_2353delinsAA
NM_001351834.2:c.1619_1620delinsAA	NP_001338763.1:p.Cys540Ter
NM_000051.4:c.1619_1620delinsAA MANE Select	NP_000042.3:p.Cys540Ter