Canonical Allele Identifier: CA658683126

Gene: ATM

Linked Data

• ClinVar Variation Id: 489559
• ClinVar RCV Id: RCV000580622
• dbSNP Id: rs1555107380

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304735_108304736delinsAT , CM000673.2:g.108304735_108304736delinsAT	GRCh38
NC_000011.9:g.108175462_108175463delinsAT , CM000673.1:g.108175462_108175463delinsAT	GRCh37
NC_000011.8:g.107680672_107680673delinsAT	NCBI36
NG_009830.1:g.86904_86905delinsAT , LRG_135:g.86904_86905delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5557_5558delinsAT	ENSP00000388058.2:p.Asp1853Ile
ENST00000713593.1:c.*5028_*5029delinsAT	ENSP00000518889.1:n.*5028_*5029delinsAT
ENST00000278616.9:c.5557_5558delinsAT	ENSP00000278616.4:p.Asp1853Ile
ENST00000683174.1:n.7041_7042delinsAT
ENST00000683524.1:n.781_782delinsAT
ENST00000684152.1:n.1271_1272delinsAT
ENST00000527805.6:c.*621_*622delinsAT	ENSP00000435747.2:n.*621_*622delinsAT
ENST00000675595.1:c.*621_*622delinsAT	ENSP00000502563.1:n.*621_*622delinsAT
ENST00000675843.1:c.5557_5558delinsAT MANE Select	ENSP00000501606.1:p.Asp1853Ile
ENST00000278616.8:c.5557_5558delinsAT	ENSP00000278616.4:p.Asp1853Ile
ENST00000452508.6:c.5557_5558delinsAT	ENSP00000388058.2:p.Asp1853Ile
ENST00000524792.5:n.1772_1773delinsAT
ENST00000529588.5:c.69_70delinsAT
ENST00000533690.5:n.961_962delinsAT
NM_000051.3:c.5557_5558delinsAT , LRG_135t1:c.5557_5558delinsAT	NP_000042.3:p.Asp1853Ile
XM_005271561.3:c.5557_5558delinsAT	XP_005271618.2:p.Asp1853Ile
XM_005271562.3:c.5557_5558delinsAT	XP_005271619.2:p.Asp1853Ile
XM_006718843.2:c.5557_5558delinsAT	XP_006718906.1:p.Asp1853Ile
XM_006718845.1:c.1513_1514delinsAT	XP_006718908.1:p.Asp505Ile
XM_011542840.1:c.5557_5558delinsAT	XP_011541142.1:p.Asp1853Ile
XM_011542841.1:c.5557_5558delinsAT	XP_011541143.1:p.Asp1853Ile
XM_011542842.1:c.5392_5393delinsAT	XP_011541144.1:p.Asp1798Ile
XM_011542843.1:c.5557_5558delinsAT	XP_011541145.1:p.Asp1853Ile
XM_011542844.1:c.4513_4514delinsAT	XP_011541146.1:p.Asp1505Ile
XM_011542845.1:c.4249_4250delinsAT	XP_011541147.1:p.Asp1417Ile
XM_011542847.1:c.628_629delinsAT	XP_011541149.1:p.Asp210Ile
NM_001351834.1:c.5557_5558delinsAT	NP_001338763.1:p.Asp1853Ile
XM_005271562.5:c.5557_5558delinsAT	XP_005271619.2:p.Asp1853Ile
XM_006718843.4:c.5557_5558delinsAT	XP_006718906.1:p.Asp1853Ile
XM_006718845.2:c.1513_1514delinsAT	XP_006718908.1:p.Asp505Ile
XM_011542840.3:c.5557_5558delinsAT	XP_011541142.1:p.Asp1853Ile
XM_011542842.3:c.5392_5393delinsAT	XP_011541144.1:p.Asp1798Ile
XM_011542843.2:c.5557_5558delinsAT	XP_011541145.1:p.Asp1853Ile
XM_011542844.3:c.4513_4514delinsAT	XP_011541146.1:p.Asp1505Ile
XM_011542845.2:c.4249_4250delinsAT	XP_011541147.1:p.Asp1417Ile
XM_017017789.2:c.5557_5558delinsAT	XP_016873278.1:p.Asp1853Ile
XM_017017790.2:c.5557_5558delinsAT	XP_016873279.1:p.Asp1853Ile
XM_017017791.1:c.5557_5558delinsAT	XP_016873280.1:p.Asp1853Ile
XR_002957150.1:n.6157_6158delinsAT
NM_001351834.2:c.5557_5558delinsAT	NP_001338763.1:p.Asp1853Ile
NM_000051.4:c.5557_5558delinsAT MANE Select	NP_000042.3:p.Asp1853Ile