Canonical Allele Identifier: CA1998775738

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108257458_108257459delinsAT , CM000673.2:g.108257458_108257459delinsAT	GRCh38
NC_000011.9:g.108128185_108128186delinsAT , CM000673.1:g.108128185_108128186delinsAT	GRCh37
NC_000011.8:g.107633395_107633396delinsAT	NCBI36
NG_009830.1:g.39627_39628delinsAT , LRG_135:g.39627_39628delinsAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.2251-23_2251-22delinsAT	ENSP00000388058.2:n.2251-23_2251-22delinsAT
ENST00000713593.1:c.*1722-23_*1722-22delinsAT	ENSP00000518889.1:n.*1722-23_*1722-22delinsAT
ENST00000278616.9:c.2251-23_2251-22delinsAT	ENSP00000278616.4:n.2251-23_2251-22delinsAT
ENST00000682516.1:n.2385-23_2385-22delinsAT
ENST00000683174.1:n.2401-23_2401-22delinsAT
ENST00000683605.1:n.1746-23_1746-22delinsAT
ENST00000684037.1:c.*1186-23_*1186-22delinsAT	ENSP00000508245.1:n.*1186-23_*1186-22delinsAT
ENST00000527805.6:c.2251-23_2251-22delinsAT	ENSP00000435747.2:n.2251-23_2251-22delinsAT
ENST00000675595.1:c.2086-23_2086-22delinsAT	ENSP00000502563.1:n.2086-23_2086-22delinsAT
ENST00000675843.1:c.2251-23_2251-22delinsAT MANE Select	ENSP00000501606.1:n.2251-23_2251-22delinsAT
ENST00000278616.8:c.2251-23_2251-22delinsAT	ENSP00000278616.4:n.2251-23_2251-22delinsAT
ENST00000452508.6:c.2251-23_2251-22delinsAT	ENSP00000388058.2:n.2251-23_2251-22delinsAT
ENST00000527805.5:c.2251-23_2251-22delinsAT	ENSP00000435747.1:n.2251-23_2251-22delinsAT
NM_000051.3:c.2251-23_2251-22delinsAT , LRG_135t1:c.2251-23_2251-22delinsAT	NP_000042.3:n.2251-23_2251-22delinsAT
XM_005271561.3:c.2251-23_2251-22delinsAT	XP_005271618.2:n.2251-23_2251-22delinsAT
XM_005271562.3:c.2251-23_2251-22delinsAT	XP_005271619.2:n.2251-23_2251-22delinsAT
XM_006718843.2:c.2251-23_2251-22delinsAT	XP_006718906.1:n.2251-23_2251-22delinsAT
XM_011542840.1:c.2251-23_2251-22delinsAT	XP_011541142.1:n.2251-23_2251-22delinsAT
XM_011542841.1:c.2251-23_2251-22delinsAT	XP_011541143.1:n.2251-23_2251-22delinsAT
XM_011542842.1:c.2086-23_2086-22delinsAT	XP_011541144.1:n.2086-23_2086-22delinsAT
XM_011542843.1:c.2251-23_2251-22delinsAT	XP_011541145.1:n.2251-23_2251-22delinsAT
XM_011542844.1:c.1207-23_1207-22delinsAT	XP_011541146.1:n.1207-23_1207-22delinsAT
XM_011542845.1:c.943-23_943-22delinsAT	XP_011541147.1:n.943-23_943-22delinsAT
XM_011542846.1:c.2251-23_2251-22delinsAT	XP_011541148.1:n.2251-23_2251-22delinsAT
NM_001351834.1:c.2251-23_2251-22delinsAT	NP_001338763.1:n.2251-23_2251-22delinsAT
XM_005271562.5:c.2251-23_2251-22delinsAT	XP_005271619.2:n.2251-23_2251-22delinsAT
XM_006718843.4:c.2251-23_2251-22delinsAT	XP_006718906.1:n.2251-23_2251-22delinsAT
XM_011542840.3:c.2251-23_2251-22delinsAT	XP_011541142.1:n.2251-23_2251-22delinsAT
XM_011542842.3:c.2086-23_2086-22delinsAT	XP_011541144.1:n.2086-23_2086-22delinsAT
XM_011542843.2:c.2251-23_2251-22delinsAT	XP_011541145.1:n.2251-23_2251-22delinsAT
XM_011542844.3:c.1207-23_1207-22delinsAT	XP_011541146.1:n.1207-23_1207-22delinsAT
XM_011542845.2:c.943-23_943-22delinsAT	XP_011541147.1:n.943-23_943-22delinsAT
XM_017017789.2:c.2251-23_2251-22delinsAT	XP_016873278.1:n.2251-23_2251-22delinsAT
XM_017017790.2:c.2251-23_2251-22delinsAT	XP_016873279.1:n.2251-23_2251-22delinsAT
XM_017017791.1:c.2251-23_2251-22delinsAT	XP_016873280.1:n.2251-23_2251-22delinsAT
XM_017017792.2:c.2251-23_2251-22delinsAT	XP_016873281.1:n.2251-23_2251-22delinsAT
XR_002957150.1:n.2984-23_2984-22delinsAT
NM_001351834.2:c.2251-23_2251-22delinsAT	NP_001338763.1:n.2251-23_2251-22delinsAT
NM_000051.4:c.2251-23_2251-22delinsAT MANE Select	NP_000042.3:n.2251-23_2251-22delinsAT