Canonical Allele Identifier: CA2695215271

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108284234_108284236delinsGA , CM000673.2:g.108284234_108284236delinsGA	GRCh38
NC_000011.9:g.108154961_108154963delinsGA , CM000673.1:g.108154961_108154963delinsGA	GRCh37
NC_000011.8:g.107660171_107660173delinsGA	NCBI36
NG_009830.1:g.66403_66405delinsGA , LRG_135:g.66403_66405delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.3754_3756delinsGA	ENSP00000388058.2:p.Tyr1252GlufsTer4
ENST00000713593.1:c.*3225_*3227delinsGA	ENSP00000518889.1:n.*3225_*3227delinsGA
ENST00000278616.9:c.3754_3756delinsGA	ENSP00000278616.4:p.Tyr1252GlufsTer4
ENST00000682289.1:n.101_103delinsGA
ENST00000683174.1:n.3904_3906delinsGA
ENST00000527805.6:c.3754_3756delinsGA	ENSP00000435747.2:p.Tyr1252GlufsTer4
ENST00000675595.1:c.3589_3591delinsGA	ENSP00000502563.1:p.Tyr1197GlufsTer4
ENST00000675843.1:c.3754_3756delinsGA MANE Select	ENSP00000501606.1:p.Tyr1252GlufsTer4
ENST00000278616.8:c.3754_3756delinsGA	ENSP00000278616.4:p.Tyr1252GlufsTer4
ENST00000452508.6:c.3754_3756delinsGA	ENSP00000388058.2:p.Tyr1252GlufsTer4
ENST00000527805.5:c.3754_3756delinsGA	ENSP00000435747.1:p.Tyr1252GlufsTer4
NM_000051.3:c.3754_3756delinsGA , LRG_135t1:c.3754_3756delinsGA	NP_000042.3:p.Tyr1252GlufsTer4
XM_005271561.3:c.3754_3756delinsGA	XP_005271618.2:p.Tyr1252GlufsTer4
XM_005271562.3:c.3754_3756delinsGA	XP_005271619.2:p.Tyr1252GlufsTer4
XM_006718843.2:c.3754_3756delinsGA	XP_006718906.1:p.Tyr1252GlufsTer4
XM_011542840.1:c.3754_3756delinsGA	XP_011541142.1:p.Tyr1252GlufsTer4
XM_011542841.1:c.3754_3756delinsGA	XP_011541143.1:p.Tyr1252GlufsTer4
XM_011542842.1:c.3589_3591delinsGA	XP_011541144.1:p.Tyr1197GlufsTer4
XM_011542843.1:c.3754_3756delinsGA	XP_011541145.1:p.Tyr1252GlufsTer4
XM_011542844.1:c.2710_2712delinsGA	XP_011541146.1:p.Tyr904GlufsTer4
XM_011542845.1:c.2446_2448delinsGA	XP_011541147.1:p.Tyr816GlufsTer4
XM_011542846.1:c.3754_3756delinsGA	XP_011541148.1:p.Tyr1252GlufsTer4
NM_001351834.1:c.3754_3756delinsGA	NP_001338763.1:p.Tyr1252GlufsTer4
XM_005271562.5:c.3754_3756delinsGA	XP_005271619.2:p.Tyr1252GlufsTer4
XM_006718843.4:c.3754_3756delinsGA	XP_006718906.1:p.Tyr1252GlufsTer4
XM_011542840.3:c.3754_3756delinsGA	XP_011541142.1:p.Tyr1252GlufsTer4
XM_011542842.3:c.3589_3591delinsGA	XP_011541144.1:p.Tyr1197GlufsTer4
XM_011542843.2:c.3754_3756delinsGA	XP_011541145.1:p.Tyr1252GlufsTer4
XM_011542844.3:c.2710_2712delinsGA	XP_011541146.1:p.Tyr904GlufsTer4
XM_011542845.2:c.2446_2448delinsGA	XP_011541147.1:p.Tyr816GlufsTer4
XM_017017789.2:c.3754_3756delinsGA	XP_016873278.1:p.Tyr1252GlufsTer4
XM_017017790.2:c.3754_3756delinsGA	XP_016873279.1:p.Tyr1252GlufsTer4
XM_017017791.1:c.3754_3756delinsGA	XP_016873280.1:p.Tyr1252GlufsTer4
XM_017017792.2:c.3754_3756delinsGA	XP_016873281.1:p.Tyr1252GlufsTer4
XR_002957150.1:n.4487_4489delinsGA
NM_001351834.2:c.3754_3756delinsGA	NP_001338763.1:p.Tyr1252GlufsTer4
NM_000051.4:c.3754_3756delinsGA MANE Select	NP_000042.3:p.Tyr1252GlufsTer4