Canonical Allele Identifier: CA2697548992

Gene: ATM

Linked Data

• ClinVar Variation Id: 2773999
• ClinVar RCV Id: RCV003585685

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244820del , CM000673.2:g.108244820del	GRCh38
NC_000011.9:g.108115547del , CM000673.1:g.108115547del	GRCh37
NC_000011.8:g.107620757del	NCBI36
NG_009830.1:g.26989del , LRG_135:g.26989del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.695del	ENSP00000388058.2:p.Ile232ThrfsTer2
ENST00000713593.1:c.*166del	ENSP00000518889.1:n.*166del
ENST00000278616.9:c.695del	ENSP00000278616.4:p.Ile232ThrfsTer2
ENST00000682430.1:n.794del
ENST00000682516.1:n.829del
ENST00000682956.1:n.829del
ENST00000683100.1:n.3042del
ENST00000683174.1:n.845del
ENST00000683605.1:n.190del
ENST00000684037.1:c.695del	ENSP00000508245.1:p.Ile232ThrfsTer2
ENST00000684061.1:n.829del
ENST00000684179.1:n.664del
ENST00000527805.6:c.695del	ENSP00000435747.2:p.Ile232ThrfsTer2
ENST00000675595.1:c.530del	ENSP00000502563.1:p.Ile177ThrfsTer2
ENST00000675843.1:c.695del MANE Select	ENSP00000501606.1:p.Ile232ThrfsTer2
ENST00000278616.8:c.695del	ENSP00000278616.4:p.Ile232ThrfsTer2
ENST00000452508.6:c.695del	ENSP00000388058.2:p.Ile232ThrfsTer2
ENST00000527805.5:c.695del	ENSP00000435747.1:p.Ile232ThrfsTer2
NM_000051.3:c.695del , LRG_135t1:c.695del	NP_000042.3:p.Ile232ThrfsTer2
XM_005271561.3:c.695del	XP_005271618.2:p.Ile232ThrfsTer2
XM_005271562.3:c.695del	XP_005271619.2:p.Ile232ThrfsTer2
XM_006718843.2:c.695del	XP_006718906.1:p.Ile232ThrfsTer2
XM_011542840.1:c.695del	XP_011541142.1:p.Ile232ThrfsTer2
XM_011542841.1:c.695del	XP_011541143.1:p.Ile232ThrfsTer2
XM_011542842.1:c.530del	XP_011541144.1:p.Ile177ThrfsTer2
XM_011542843.1:c.695del	XP_011541145.1:p.Ile232ThrfsTer2
XM_011542844.1:c.-350del	XP_011541146.1:n.-350del
XM_011542846.1:c.695del	XP_011541148.1:p.Ile232ThrfsTer2
NM_001351834.1:c.695del	NP_001338763.1:p.Ile232ThrfsTer2
XM_005271562.5:c.695del	XP_005271619.2:p.Ile232ThrfsTer2
XM_006718843.4:c.695del	XP_006718906.1:p.Ile232ThrfsTer2
XM_011542840.3:c.695del	XP_011541142.1:p.Ile232ThrfsTer2
XM_011542842.3:c.530del	XP_011541144.1:p.Ile177ThrfsTer2
XM_011542843.2:c.695del	XP_011541145.1:p.Ile232ThrfsTer2
XM_011542844.3:c.-350del	XP_011541146.1:n.-350del
XM_017017789.2:c.695del	XP_016873278.1:p.Ile232ThrfsTer2
XM_017017790.2:c.695del	XP_016873279.1:p.Ile232ThrfsTer2
XM_017017791.1:c.695del	XP_016873280.1:p.Ile232ThrfsTer2
XM_017017792.2:c.695del	XP_016873281.1:p.Ile232ThrfsTer2
XR_002957150.1:n.1428del
NM_001351834.2:c.695del	NP_001338763.1:p.Ile232ThrfsTer2
NM_000051.4:c.695del MANE Select	NP_000042.3:p.Ile232ThrfsTer2