Canonical Allele Identifier: CA2499220624

Gene: ATM

Linked Data

• ClinVar Variation Id: 1074850
• ClinVar RCV Id: RCV001388289 ; RCV002368225 ; RCV004037695
• dbSNP Id: rs2135704536

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108284238_108284239del , CM000673.2:g.108284238_108284239del	GRCh38
NC_000011.9:g.108154965_108154966del , CM000673.1:g.108154965_108154966del	GRCh37
NC_000011.8:g.107660175_107660176del	NCBI36
NG_009830.1:g.66407_66408del , LRG_135:g.66407_66408del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.3758_3759del	ENSP00000388058.2:p.Lys1253SerfsTer9
ENST00000713593.1:c.*3229_*3230del	ENSP00000518889.1:n.*3229_*3230del
ENST00000278616.9:c.3758_3759del	ENSP00000278616.4:p.Lys1253SerfsTer9
ENST00000682289.1:n.105_106del
ENST00000683174.1:n.3908_3909del
ENST00000527805.6:c.3758_3759del	ENSP00000435747.2:p.Lys1253SerfsTer9
ENST00000675595.1:c.3593_3594del	ENSP00000502563.1:p.Lys1198SerfsTer9
ENST00000675843.1:c.3758_3759del MANE Select	ENSP00000501606.1:p.Lys1253SerfsTer9
ENST00000278616.8:c.3758_3759del	ENSP00000278616.4:p.Lys1253SerfsTer9
ENST00000452508.6:c.3758_3759del	ENSP00000388058.2:p.Lys1253SerfsTer9
ENST00000527805.5:c.3758_3759del	ENSP00000435747.1:p.Lys1253SerfsTer9
NM_000051.3:c.3758_3759del , LRG_135t1:c.3758_3759del	NP_000042.3:p.Lys1253SerfsTer9
XM_005271561.3:c.3758_3759del	XP_005271618.2:p.Lys1253SerfsTer9
XM_005271562.3:c.3758_3759del	XP_005271619.2:p.Lys1253SerfsTer9
XM_006718843.2:c.3758_3759del	XP_006718906.1:p.Lys1253SerfsTer9
XM_011542840.1:c.3758_3759del	XP_011541142.1:p.Lys1253SerfsTer9
XM_011542841.1:c.3758_3759del	XP_011541143.1:p.Lys1253SerfsTer9
XM_011542842.1:c.3593_3594del	XP_011541144.1:p.Lys1198SerfsTer9
XM_011542843.1:c.3758_3759del	XP_011541145.1:p.Lys1253SerfsTer9
XM_011542844.1:c.2714_2715del	XP_011541146.1:p.Lys905SerfsTer9
XM_011542845.1:c.2450_2451del	XP_011541147.1:p.Lys817SerfsTer9
XM_011542846.1:c.3758_3759del	XP_011541148.1:p.Lys1253SerfsTer9
NM_001351834.1:c.3758_3759del	NP_001338763.1:p.Lys1253SerfsTer9
XM_005271562.5:c.3758_3759del	XP_005271619.2:p.Lys1253SerfsTer9
XM_006718843.4:c.3758_3759del	XP_006718906.1:p.Lys1253SerfsTer9
XM_011542840.3:c.3758_3759del	XP_011541142.1:p.Lys1253SerfsTer9
XM_011542842.3:c.3593_3594del	XP_011541144.1:p.Lys1198SerfsTer9
XM_011542843.2:c.3758_3759del	XP_011541145.1:p.Lys1253SerfsTer9
XM_011542844.3:c.2714_2715del	XP_011541146.1:p.Lys905SerfsTer9
XM_011542845.2:c.2450_2451del	XP_011541147.1:p.Lys817SerfsTer9
XM_017017789.2:c.3758_3759del	XP_016873278.1:p.Lys1253SerfsTer9
XM_017017790.2:c.3758_3759del	XP_016873279.1:p.Lys1253SerfsTer9
XM_017017791.1:c.3758_3759del	XP_016873280.1:p.Lys1253SerfsTer9
XM_017017792.2:c.3758_3759del	XP_016873281.1:p.Lys1253SerfsTer9
XR_002957150.1:n.4491_4492del
NM_001351834.2:c.3758_3759del	NP_001338763.1:p.Lys1253SerfsTer9
NM_000051.4:c.3758_3759del MANE Select	NP_000042.3:p.Lys1253SerfsTer9