Canonical Allele Identifier: CA1139662321

Gene: ATM

Linked Data

• ClinVar Variation Id: 929198
• ClinVar RCV Id: RCV001194298 ; RCV001423192 ; RCV002221615 ; RCV002348640 ; RCV003229020
• dbSNP Id: rs2083595502
• ERepo: CA1139662321/MONDO:0016419/020

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304734_108304735delinsGA , CM000673.2:g.108304734_108304735delinsGA	GRCh38
NC_000011.9:g.108175461_108175462delinsGA , CM000673.1:g.108175461_108175462delinsGA	GRCh37
NC_000011.8:g.107680671_107680672delinsGA	NCBI36
NG_009830.1:g.86903_86904delinsGA , LRG_135:g.86903_86904delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5556_5557delinsGA	ENSP00000388058.2:p.Asp1853Asn
ENST00000713593.1:c.*5027_*5028delinsGA	ENSP00000518889.1:n.*5027_*5028delinsGA
ENST00000278616.9:c.5556_5557delinsGA	ENSP00000278616.4:p.Asp1853Asn
ENST00000683174.1:n.7040_7041delinsGA
ENST00000683524.1:n.780_781delinsGA
ENST00000684152.1:n.1270_1271delinsGA
ENST00000527805.6:c.*620_*621delinsGA	ENSP00000435747.2:n.*620_*621delinsGA
ENST00000675595.1:c.*620_*621delinsGA	ENSP00000502563.1:n.*620_*621delinsGA
ENST00000675843.1:c.5556_5557delinsGA MANE Select	ENSP00000501606.1:p.Asp1853Asn
ENST00000278616.8:c.5556_5557delinsGA	ENSP00000278616.4:p.Asp1853Asn
ENST00000452508.6:c.5556_5557delinsGA	ENSP00000388058.2:p.Asp1853Asn
ENST00000524792.5:n.1771_1772delinsGA
ENST00000529588.5:c.68_69delinsGA
ENST00000533690.5:n.960_961delinsGA
NM_000051.3:c.5556_5557delinsGA , LRG_135t1:c.5556_5557delinsGA	NP_000042.3:p.Asp1853Asn
XM_005271561.3:c.5556_5557delinsGA	XP_005271618.2:p.Asp1853Asn
XM_005271562.3:c.5556_5557delinsGA	XP_005271619.2:p.Asp1853Asn
XM_006718843.2:c.5556_5557delinsGA	XP_006718906.1:p.Asp1853Asn
XM_006718845.1:c.1512_1513delinsGA	XP_006718908.1:p.Asp505Asn
XM_011542840.1:c.5556_5557delinsGA	XP_011541142.1:p.Asp1853Asn
XM_011542841.1:c.5556_5557delinsGA	XP_011541143.1:p.Asp1853Asn
XM_011542842.1:c.5391_5392delinsGA	XP_011541144.1:p.Asp1798Asn
XM_011542843.1:c.5556_5557delinsGA	XP_011541145.1:p.Asp1853Asn
XM_011542844.1:c.4512_4513delinsGA	XP_011541146.1:p.Asp1505Asn
XM_011542845.1:c.4248_4249delinsGA	XP_011541147.1:p.Asp1417Asn
XM_011542847.1:c.627_628delinsGA	XP_011541149.1:p.Asp210Asn
NM_001351834.1:c.5556_5557delinsGA	NP_001338763.1:p.Asp1853Asn
XM_005271562.5:c.5556_5557delinsGA	XP_005271619.2:p.Asp1853Asn
XM_006718843.4:c.5556_5557delinsGA	XP_006718906.1:p.Asp1853Asn
XM_006718845.2:c.1512_1513delinsGA	XP_006718908.1:p.Asp505Asn
XM_011542840.3:c.5556_5557delinsGA	XP_011541142.1:p.Asp1853Asn
XM_011542842.3:c.5391_5392delinsGA	XP_011541144.1:p.Asp1798Asn
XM_011542843.2:c.5556_5557delinsGA	XP_011541145.1:p.Asp1853Asn
XM_011542844.3:c.4512_4513delinsGA	XP_011541146.1:p.Asp1505Asn
XM_011542845.2:c.4248_4249delinsGA	XP_011541147.1:p.Asp1417Asn
XM_017017789.2:c.5556_5557delinsGA	XP_016873278.1:p.Asp1853Asn
XM_017017790.2:c.5556_5557delinsGA	XP_016873279.1:p.Asp1853Asn
XM_017017791.1:c.5556_5557delinsGA	XP_016873280.1:p.Asp1853Asn
XR_002957150.1:n.6156_6157delinsGA
NM_001351834.2:c.5556_5557delinsGA	NP_001338763.1:p.Asp1853Asn
NM_000051.4:c.5556_5557delinsGA MANE Select	NP_000042.3:p.Asp1853Asn