Canonical Allele Identifier: CA1998799953

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302948_108302949delinsGA , CM000673.2:g.108302948_108302949delinsGA	GRCh38
NC_000011.9:g.108173675_108173676delinsGA , CM000673.1:g.108173675_108173676delinsGA	GRCh37
NC_000011.8:g.107678885_107678886delinsGA	NCBI36
NG_009830.1:g.85117_85118delinsGA , LRG_135:g.85117_85118delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5415_5416delinsGA	ENSP00000388058.2:p.Trp1805=
ENST00000713593.1:c.*4886_*4887delinsGA	ENSP00000518889.1:n.*4886_*4887delinsGA
ENST00000278616.9:c.5415_5416delinsGA	ENSP00000278616.4:p.Trp1805=
ENST00000683174.1:n.6899_6900delinsGA
ENST00000683524.1:n.639_640delinsGA
ENST00000684152.1:n.1129_1130delinsGA
ENST00000527805.6:c.*479_*480delinsGA	ENSP00000435747.2:n.*479_*480delinsGA
ENST00000675595.1:c.*479_*480delinsGA	ENSP00000502563.1:n.*479_*480delinsGA
ENST00000675843.1:c.5415_5416delinsGA MANE Select	ENSP00000501606.1:p.Trp1805=
ENST00000278616.8:c.5415_5416delinsGA	ENSP00000278616.4:p.Trp1805=
ENST00000452508.6:c.5415_5416delinsGA	ENSP00000388058.2:p.Trp1805=
ENST00000524792.5:n.1630_1631delinsGA
ENST00000533690.5:n.819_820delinsGA
ENST00000534625.1:n.644_645delinsGA
NM_000051.3:c.5415_5416delinsGA , LRG_135t1:c.5415_5416delinsGA	NP_000042.3:p.Trp1805=
XM_005271561.3:c.5415_5416delinsGA	XP_005271618.2:p.Trp1805=
XM_005271562.3:c.5415_5416delinsGA	XP_005271619.2:p.Trp1805=
XM_006718843.2:c.5415_5416delinsGA	XP_006718906.1:p.Trp1805=
XM_006718845.1:c.1371_1372delinsGA	XP_006718908.1:p.Trp457=
XM_011542840.1:c.5415_5416delinsGA	XP_011541142.1:p.Trp1805=
XM_011542841.1:c.5415_5416delinsGA	XP_011541143.1:p.Trp1805=
XM_011542842.1:c.5250_5251delinsGA	XP_011541144.1:p.Trp1750=
XM_011542843.1:c.5415_5416delinsGA	XP_011541145.1:p.Trp1805=
XM_011542844.1:c.4371_4372delinsGA	XP_011541146.1:p.Trp1457=
XM_011542845.1:c.4107_4108delinsGA	XP_011541147.1:p.Trp1369=
XM_011542846.1:c.*73_*74delinsGA	XP_011541148.1:n.*73_*74delinsGA
XM_011542847.1:c.486_487delinsGA	XP_011541149.1:p.Trp162=
NM_001351834.1:c.5415_5416delinsGA	NP_001338763.1:p.Trp1805=
XM_005271562.5:c.5415_5416delinsGA	XP_005271619.2:p.Trp1805=
XM_006718843.4:c.5415_5416delinsGA	XP_006718906.1:p.Trp1805=
XM_006718845.2:c.1371_1372delinsGA	XP_006718908.1:p.Trp457=
XM_011542840.3:c.5415_5416delinsGA	XP_011541142.1:p.Trp1805=
XM_011542842.3:c.5250_5251delinsGA	XP_011541144.1:p.Trp1750=
XM_011542843.2:c.5415_5416delinsGA	XP_011541145.1:p.Trp1805=
XM_011542844.3:c.4371_4372delinsGA	XP_011541146.1:p.Trp1457=
XM_011542845.2:c.4107_4108delinsGA	XP_011541147.1:p.Trp1369=
XM_017017789.2:c.5415_5416delinsGA	XP_016873278.1:p.Trp1805=
XM_017017790.2:c.5415_5416delinsGA	XP_016873279.1:p.Trp1805=
XM_017017791.1:c.5415_5416delinsGA	XP_016873280.1:p.Trp1805=
XR_002957150.1:n.6015_6016delinsGA
NM_001351834.2:c.5415_5416delinsGA	NP_001338763.1:p.Trp1805=
NM_000051.4:c.5415_5416delinsGA MANE Select	NP_000042.3:p.Trp1805=