Canonical Allele Identifier: CA1998771475

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251960_108251961delinsGA , CM000673.2:g.108251960_108251961delinsGA	GRCh38
NC_000011.9:g.108122687_108122688delinsGA , CM000673.1:g.108122687_108122688delinsGA	GRCh37
NC_000011.8:g.107627897_107627898delinsGA	NCBI36
NG_009830.1:g.34129_34130delinsGA , LRG_135:g.34129_34130delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1731_1732delinsGA	ENSP00000388058.2:p.Met577=
ENST00000713593.1:c.*1202_*1203delinsGA	ENSP00000518889.1:n.*1202_*1203delinsGA
ENST00000278616.9:c.1731_1732delinsGA	ENSP00000278616.4:p.Met577=
ENST00000682516.1:n.1865_1866delinsGA
ENST00000683174.1:n.1881_1882delinsGA
ENST00000683605.1:n.1226_1227delinsGA
ENST00000684037.1:c.*666_*667delinsGA	ENSP00000508245.1:n.*666_*667delinsGA
ENST00000684061.1:n.1865_1866delinsGA
ENST00000527805.6:c.1731_1732delinsGA	ENSP00000435747.2:p.Met577=
ENST00000675595.1:c.1566_1567delinsGA	ENSP00000502563.1:p.Met522=
ENST00000675843.1:c.1731_1732delinsGA MANE Select	ENSP00000501606.1:p.Met577=
ENST00000278616.8:c.1731_1732delinsGA	ENSP00000278616.4:p.Met577=
ENST00000452508.6:c.1731_1732delinsGA	ENSP00000388058.2:p.Met577=
ENST00000527805.5:c.1731_1732delinsGA	ENSP00000435747.1:p.Met577=
NM_000051.3:c.1731_1732delinsGA , LRG_135t1:c.1731_1732delinsGA	NP_000042.3:p.Met577=
XM_005271561.3:c.1731_1732delinsGA	XP_005271618.2:p.Met577=
XM_005271562.3:c.1731_1732delinsGA	XP_005271619.2:p.Met577=
XM_006718843.2:c.1731_1732delinsGA	XP_006718906.1:p.Met577=
XM_011542840.1:c.1731_1732delinsGA	XP_011541142.1:p.Met577=
XM_011542841.1:c.1731_1732delinsGA	XP_011541143.1:p.Met577=
XM_011542842.1:c.1566_1567delinsGA	XP_011541144.1:p.Met522=
XM_011542843.1:c.1731_1732delinsGA	XP_011541145.1:p.Met577=
XM_011542844.1:c.687_688delinsGA	XP_011541146.1:p.Met229=
XM_011542845.1:c.423_424delinsGA	XP_011541147.1:p.Met141=
XM_011542846.1:c.1731_1732delinsGA	XP_011541148.1:p.Met577=
NM_001351834.1:c.1731_1732delinsGA	NP_001338763.1:p.Met577=
XM_005271562.5:c.1731_1732delinsGA	XP_005271619.2:p.Met577=
XM_006718843.4:c.1731_1732delinsGA	XP_006718906.1:p.Met577=
XM_011542840.3:c.1731_1732delinsGA	XP_011541142.1:p.Met577=
XM_011542842.3:c.1566_1567delinsGA	XP_011541144.1:p.Met522=
XM_011542843.2:c.1731_1732delinsGA	XP_011541145.1:p.Met577=
XM_011542844.3:c.687_688delinsGA	XP_011541146.1:p.Met229=
XM_011542845.2:c.423_424delinsGA	XP_011541147.1:p.Met141=
XM_017017789.2:c.1731_1732delinsGA	XP_016873278.1:p.Met577=
XM_017017790.2:c.1731_1732delinsGA	XP_016873279.1:p.Met577=
XM_017017791.1:c.1731_1732delinsGA	XP_016873280.1:p.Met577=
XM_017017792.2:c.1731_1732delinsGA	XP_016873281.1:p.Met577=
XR_002957150.1:n.2464_2465delinsGA
NM_001351834.2:c.1731_1732delinsGA	NP_001338763.1:p.Met577=
NM_000051.4:c.1731_1732delinsGA MANE Select	NP_000042.3:p.Met577=