Canonical Allele Identifier: CA1998785620

Gene: ATM

Linked Data

• ClinVar Variation Id: 964679
• ClinVar RCV Id: RCV001238947
• dbSNP Id: rs2082682405

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108289759_108289761del , CM000673.2:g.108289759_108289761del	GRCh38
NC_000011.9:g.108160486_108160488del , CM000673.1:g.108160486_108160488del	GRCh37
NC_000011.8:g.107665696_107665698del	NCBI36
NG_009830.1:g.71928_71930del , LRG_135:g.71928_71930del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.4394_4396del	ENSP00000388058.2:p.Leu1465del
ENST00000713593.1:c.*3865_*3867del	ENSP00000518889.1:n.*3865_*3867del
ENST00000278616.9:c.4394_4396del	ENSP00000278616.4:p.Leu1465del
ENST00000533733.6:n.1657_1659del
ENST00000683174.1:n.4544_4546del
ENST00000527805.6:c.4394_4396del	ENSP00000435747.2:p.Leu1465del
ENST00000675595.1:c.4229_4231del	ENSP00000502563.1:p.Leu1410del
ENST00000675843.1:c.4394_4396del MANE Select	ENSP00000501606.1:p.Leu1465del
ENST00000278616.8:c.4394_4396del	ENSP00000278616.4:p.Leu1465del
ENST00000452508.6:c.4394_4396del	ENSP00000388058.2:p.Leu1465del
ENST00000524792.5:n.609_611del
ENST00000531525.2:c.401_403del	ENSP00000434327.2:p.Leu134del
ENST00000533733.5:n.823_825del
NM_000051.3:c.4394_4396del , LRG_135t1:c.4394_4396del	NP_000042.3:p.Leu1465del
XM_005271561.3:c.4394_4396del	XP_005271618.2:p.Leu1465del
XM_005271562.3:c.4394_4396del	XP_005271619.2:p.Leu1465del
XM_006718843.2:c.4394_4396del	XP_006718906.1:p.Leu1465del
XM_006718845.1:c.350_352del	XP_006718908.1:p.Leu117del
XM_011542840.1:c.4394_4396del	XP_011541142.1:p.Leu1465del
XM_011542841.1:c.4394_4396del	XP_011541143.1:p.Leu1465del
XM_011542842.1:c.4229_4231del	XP_011541144.1:p.Leu1410del
XM_011542843.1:c.4394_4396del	XP_011541145.1:p.Leu1465del
XM_011542844.1:c.3350_3352del	XP_011541146.1:p.Leu1117del
XM_011542845.1:c.3086_3088del	XP_011541147.1:p.Leu1029del
XM_011542846.1:c.4394_4396del	XP_011541148.1:p.Leu1465del
NM_001351834.1:c.4394_4396del	NP_001338763.1:p.Leu1465del
XM_005271562.5:c.4394_4396del	XP_005271619.2:p.Leu1465del
XM_006718843.4:c.4394_4396del	XP_006718906.1:p.Leu1465del
XM_006718845.2:c.350_352del	XP_006718908.1:p.Leu117del
XM_011542840.3:c.4394_4396del	XP_011541142.1:p.Leu1465del
XM_011542842.3:c.4229_4231del	XP_011541144.1:p.Leu1410del
XM_011542843.2:c.4394_4396del	XP_011541145.1:p.Leu1465del
XM_011542844.3:c.3350_3352del	XP_011541146.1:p.Leu1117del
XM_011542845.2:c.3086_3088del	XP_011541147.1:p.Leu1029del
XM_017017789.2:c.4394_4396del	XP_016873278.1:p.Leu1465del
XM_017017790.2:c.4394_4396del	XP_016873279.1:p.Leu1465del
XM_017017791.1:c.4394_4396del	XP_016873280.1:p.Leu1465del
XM_017017792.2:c.4394_4396del	XP_016873281.1:p.Leu1465del
XR_002957150.1:n.5127_5129del
NM_001351834.2:c.4394_4396del	NP_001338763.1:p.Leu1465del
NM_000051.4:c.4394_4396del MANE Select	NP_000042.3:p.Leu1465del