Canonical Allele Identifier: CA1998795435

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108287656_108287657delinsGT , CM000673.2:g.108287656_108287657delinsGT	GRCh38
NC_000011.9:g.108158383_108158384delinsGT , CM000673.1:g.108158383_108158384delinsGT	GRCh37
NC_000011.8:g.107663593_107663594delinsGT	NCBI36
NG_009830.1:g.69825_69826delinsGT , LRG_135:g.69825_69826delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.4050_4051delinsGT	ENSP00000388058.2:p.Thr1350=
ENST00000713593.1:c.*3521_*3522delinsGT	ENSP00000518889.1:n.*3521_*3522delinsGT
ENST00000278616.9:c.4050_4051delinsGT	ENSP00000278616.4:p.Thr1350=
ENST00000533733.6:n.1313_1314delinsGT
ENST00000683174.1:n.4200_4201delinsGT
ENST00000527805.6:c.4050_4051delinsGT	ENSP00000435747.2:p.Thr1350=
ENST00000675595.1:c.3885_3886delinsGT	ENSP00000502563.1:p.Thr1295=
ENST00000675843.1:c.4050_4051delinsGT MANE Select	ENSP00000501606.1:p.Thr1350=
ENST00000278616.8:c.4050_4051delinsGT	ENSP00000278616.4:p.Thr1350=
ENST00000452508.6:c.4050_4051delinsGT	ENSP00000388058.2:p.Thr1350=
ENST00000524792.5:n.265_266delinsGT
ENST00000527805.5:c.4050_4051delinsGT	ENSP00000435747.1:p.Thr1350=
ENST00000531525.2:c.57_58delinsGT	ENSP00000434327.2:p.Thr19=
ENST00000533733.5:n.479_480delinsGT
NM_000051.3:c.4050_4051delinsGT , LRG_135t1:c.4050_4051delinsGT	NP_000042.3:p.Thr1350=
XM_005271561.3:c.4050_4051delinsGT	XP_005271618.2:p.Thr1350=
XM_005271562.3:c.4050_4051delinsGT	XP_005271619.2:p.Thr1350=
XM_006718843.2:c.4050_4051delinsGT	XP_006718906.1:p.Thr1350=
XM_006718845.1:c.6_7delinsGT	XP_006718908.1:p.Thr2=
XM_011542840.1:c.4050_4051delinsGT	XP_011541142.1:p.Thr1350=
XM_011542841.1:c.4050_4051delinsGT	XP_011541143.1:p.Thr1350=
XM_011542842.1:c.3885_3886delinsGT	XP_011541144.1:p.Thr1295=
XM_011542843.1:c.4050_4051delinsGT	XP_011541145.1:p.Thr1350=
XM_011542844.1:c.3006_3007delinsGT	XP_011541146.1:p.Thr1002=
XM_011542845.1:c.2742_2743delinsGT	XP_011541147.1:p.Thr914=
XM_011542846.1:c.4050_4051delinsGT	XP_011541148.1:p.Thr1350=
NM_001351834.1:c.4050_4051delinsGT	NP_001338763.1:p.Thr1350=
XM_005271562.5:c.4050_4051delinsGT	XP_005271619.2:p.Thr1350=
XM_006718843.4:c.4050_4051delinsGT	XP_006718906.1:p.Thr1350=
XM_006718845.2:c.6_7delinsGT	XP_006718908.1:p.Thr2=
XM_011542840.3:c.4050_4051delinsGT	XP_011541142.1:p.Thr1350=
XM_011542842.3:c.3885_3886delinsGT	XP_011541144.1:p.Thr1295=
XM_011542843.2:c.4050_4051delinsGT	XP_011541145.1:p.Thr1350=
XM_011542844.3:c.3006_3007delinsGT	XP_011541146.1:p.Thr1002=
XM_011542845.2:c.2742_2743delinsGT	XP_011541147.1:p.Thr914=
XM_017017789.2:c.4050_4051delinsGT	XP_016873278.1:p.Thr1350=
XM_017017790.2:c.4050_4051delinsGT	XP_016873279.1:p.Thr1350=
XM_017017791.1:c.4050_4051delinsGT	XP_016873280.1:p.Thr1350=
XM_017017792.2:c.4050_4051delinsGT	XP_016873281.1:p.Thr1350=
XR_002957150.1:n.4783_4784delinsGT
NM_001351834.2:c.4050_4051delinsGT	NP_001338763.1:p.Thr1350=
NM_000051.4:c.4050_4051delinsGT MANE Select	NP_000042.3:p.Thr1350=