Canonical Allele Identifier: CA2582342483

Gene: ATM

Linked Data

• ClinVar Variation Id: 2583815
• ClinVar RCV Id: RCV003334737

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304686_108304687delinsG , CM000673.2:g.108304686_108304687delinsG	GRCh38
NC_000011.9:g.108175413_108175414delinsG , CM000673.1:g.108175413_108175414delinsG	GRCh37
NC_000011.8:g.107680623_107680624delinsG	NCBI36
NG_009830.1:g.86855_86856delinsG , LRG_135:g.86855_86856delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5508_5509delinsG	ENSP00000388058.2:p.Asp1836GlufsTer10
ENST00000713593.1:c.*4979_*4980delinsG	ENSP00000518889.1:n.*4979_*4980delinsG
ENST00000278616.9:c.5508_5509delinsG	ENSP00000278616.4:p.Asp1836GlufsTer10
ENST00000683174.1:n.6992_6993delinsG
ENST00000683524.1:n.732_733delinsG
ENST00000684152.1:n.1222_1223delinsG
ENST00000527805.6:c.*572_*573delinsG	ENSP00000435747.2:n.*572_*573delinsG
ENST00000675595.1:c.*572_*573delinsG	ENSP00000502563.1:n.*572_*573delinsG
ENST00000675843.1:c.5508_5509delinsG MANE Select	ENSP00000501606.1:p.Asp1836GlufsTer10
ENST00000278616.8:c.5508_5509delinsG	ENSP00000278616.4:p.Asp1836GlufsTer10
ENST00000452508.6:c.5508_5509delinsG	ENSP00000388058.2:p.Asp1836GlufsTer10
ENST00000524792.5:n.1723_1724delinsG
ENST00000529588.5:c.20_21delinsG
ENST00000533690.5:n.912_913delinsG
NM_000051.3:c.5508_5509delinsG , LRG_135t1:c.5508_5509delinsG	NP_000042.3:p.Asp1836GlufsTer10
XM_005271561.3:c.5508_5509delinsG	XP_005271618.2:p.Asp1836GlufsTer10
XM_005271562.3:c.5508_5509delinsG	XP_005271619.2:p.Asp1836GlufsTer10
XM_006718843.2:c.5508_5509delinsG	XP_006718906.1:p.Asp1836GlufsTer10
XM_006718845.1:c.1464_1465delinsG	XP_006718908.1:p.Asp488GlufsTer10
XM_011542840.1:c.5508_5509delinsG	XP_011541142.1:p.Asp1836GlufsTer10
XM_011542841.1:c.5508_5509delinsG	XP_011541143.1:p.Asp1836GlufsTer10
XM_011542842.1:c.5343_5344delinsG	XP_011541144.1:p.Asp1781GlufsTer10
XM_011542843.1:c.5508_5509delinsG	XP_011541145.1:p.Asp1836GlufsTer10
XM_011542844.1:c.4464_4465delinsG	XP_011541146.1:p.Asp1488GlufsTer10
XM_011542845.1:c.4200_4201delinsG	XP_011541147.1:p.Asp1400GlufsTer10
XM_011542847.1:c.579_580delinsG	XP_011541149.1:p.Asp193GlufsTer10
NM_001351834.1:c.5508_5509delinsG	NP_001338763.1:p.Asp1836GlufsTer10
XM_005271562.5:c.5508_5509delinsG	XP_005271619.2:p.Asp1836GlufsTer10
XM_006718843.4:c.5508_5509delinsG	XP_006718906.1:p.Asp1836GlufsTer10
XM_006718845.2:c.1464_1465delinsG	XP_006718908.1:p.Asp488GlufsTer10
XM_011542840.3:c.5508_5509delinsG	XP_011541142.1:p.Asp1836GlufsTer10
XM_011542842.3:c.5343_5344delinsG	XP_011541144.1:p.Asp1781GlufsTer10
XM_011542843.2:c.5508_5509delinsG	XP_011541145.1:p.Asp1836GlufsTer10
XM_011542844.3:c.4464_4465delinsG	XP_011541146.1:p.Asp1488GlufsTer10
XM_011542845.2:c.4200_4201delinsG	XP_011541147.1:p.Asp1400GlufsTer10
XM_017017789.2:c.5508_5509delinsG	XP_016873278.1:p.Asp1836GlufsTer10
XM_017017790.2:c.5508_5509delinsG	XP_016873279.1:p.Asp1836GlufsTer10
XM_017017791.1:c.5508_5509delinsG	XP_016873280.1:p.Asp1836GlufsTer10
XR_002957150.1:n.6108_6109delinsG
NM_001351834.2:c.5508_5509delinsG	NP_001338763.1:p.Asp1836GlufsTer10
NM_000051.4:c.5508_5509delinsG MANE Select	NP_000042.3:p.Asp1836GlufsTer10