Canonical Allele Identifier: CA1998763647

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244003_108244005delinsCAT , CM000673.2:g.108244003_108244005delinsCAT	GRCh38
NC_000011.9:g.108114730_108114732delinsCAT , CM000673.1:g.108114730_108114732delinsCAT	GRCh37
NC_000011.8:g.107619940_107619942delinsCAT	NCBI36
NG_009830.1:g.26172_26174delinsCAT , LRG_135:g.26172_26174delinsCAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.547_549delinsCAT	ENSP00000388058.2:p.His183=
ENST00000713593.1:c.*18_*20delinsCAT	ENSP00000518889.1:n.*18_*20delinsCAT
ENST00000278616.9:c.547_549delinsCAT	ENSP00000278616.4:p.His183=
ENST00000682430.1:n.646_648delinsCAT
ENST00000682516.1:n.681_683delinsCAT
ENST00000682956.1:n.681_683delinsCAT
ENST00000683100.1:n.2225_2227delinsCAT
ENST00000683174.1:n.697_699delinsCAT
ENST00000683605.1:n.42_44delinsCAT
ENST00000684037.1:c.547_549delinsCAT	ENSP00000508245.1:p.His183=
ENST00000684061.1:n.681_683delinsCAT
ENST00000684179.1:n.516_518delinsCAT
ENST00000527805.6:c.547_549delinsCAT	ENSP00000435747.2:p.His183=
ENST00000675595.1:c.382_384delinsCAT	ENSP00000502563.1:p.His128=
ENST00000675843.1:c.547_549delinsCAT MANE Select	ENSP00000501606.1:p.His183=
ENST00000278616.8:c.547_549delinsCAT	ENSP00000278616.4:p.His183=
ENST00000452508.6:c.547_549delinsCAT	ENSP00000388058.2:p.His183=
ENST00000527805.5:c.547_549delinsCAT	ENSP00000435747.1:p.His183=
ENST00000527891.5:c.382_384delinsCAT	ENSP00000433955.1:p.His128=
NM_000051.3:c.547_549delinsCAT , LRG_135t1:c.547_549delinsCAT	NP_000042.3:p.His183=
XM_005271561.3:c.547_549delinsCAT	XP_005271618.2:p.His183=
XM_005271562.3:c.547_549delinsCAT	XP_005271619.2:p.His183=
XM_006718843.2:c.547_549delinsCAT	XP_006718906.1:p.His183=
XM_011542840.1:c.547_549delinsCAT	XP_011541142.1:p.His183=
XM_011542841.1:c.547_549delinsCAT	XP_011541143.1:p.His183=
XM_011542842.1:c.382_384delinsCAT	XP_011541144.1:p.His128=
XM_011542843.1:c.547_549delinsCAT	XP_011541145.1:p.His183=
XM_011542844.1:c.-498_-496delinsCAT	XP_011541146.1:n.-498_-496delinsCAT
XM_011542846.1:c.547_549delinsCAT	XP_011541148.1:p.His183=
NM_001351834.1:c.547_549delinsCAT	NP_001338763.1:p.His183=
XM_005271562.5:c.547_549delinsCAT	XP_005271619.2:p.His183=
XM_006718843.4:c.547_549delinsCAT	XP_006718906.1:p.His183=
XM_011542840.3:c.547_549delinsCAT	XP_011541142.1:p.His183=
XM_011542842.3:c.382_384delinsCAT	XP_011541144.1:p.His128=
XM_011542843.2:c.547_549delinsCAT	XP_011541145.1:p.His183=
XM_011542844.3:c.-498_-496delinsCAT	XP_011541146.1:n.-498_-496delinsCAT
XM_017017789.2:c.547_549delinsCAT	XP_016873278.1:p.His183=
XM_017017790.2:c.547_549delinsCAT	XP_016873279.1:p.His183=
XM_017017791.1:c.547_549delinsCAT	XP_016873280.1:p.His183=
XM_017017792.2:c.547_549delinsCAT	XP_016873281.1:p.His183=
XR_002957150.1:n.1280_1282delinsCAT
NM_001351834.2:c.547_549delinsCAT	NP_001338763.1:p.His183=
NM_000051.4:c.547_549delinsCAT MANE Select	NP_000042.3:p.His183=