Canonical Allele Identifier: CA2825001792

Gene: ATM

Linked Data

• ClinVar Variation Id: 3232159
• ClinVar RCV Id: RCV004520842

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108251891_108251896delinsTT , CM000673.2:g.108251891_108251896delinsTT	GRCh38
NC_000011.9:g.108122618_108122623delinsTT , CM000673.1:g.108122618_108122623delinsTT	GRCh37
NC_000011.8:g.107627828_107627833delinsTT	NCBI36
NG_009830.1:g.34060_34065delinsTT , LRG_135:g.34060_34065delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1662_1667delinsTT	ENSP00000388058.2:p.Val555Ter
ENST00000713593.1:c.*1133_*1138delinsTT	ENSP00000518889.1:n.*1133_*1138delinsTT
ENST00000278616.9:c.1662_1667delinsTT	ENSP00000278616.4:p.Val555Ter
ENST00000682516.1:n.1796_1801delinsTT
ENST00000683174.1:n.1812_1817delinsTT
ENST00000683605.1:n.1157_1162delinsTT
ENST00000684037.1:c.*597_*602delinsTT	ENSP00000508245.1:n.*597_*602delinsTT
ENST00000684061.1:n.1796_1801delinsTT
ENST00000527805.6:c.1662_1667delinsTT	ENSP00000435747.2:p.Val555Ter
ENST00000675595.1:c.1497_1502delinsTT	ENSP00000502563.1:p.Val500Ter
ENST00000675843.1:c.1662_1667delinsTT MANE Select	ENSP00000501606.1:p.Val555Ter
ENST00000278616.8:c.1662_1667delinsTT	ENSP00000278616.4:p.Val555Ter
ENST00000452508.6:c.1662_1667delinsTT	ENSP00000388058.2:p.Val555Ter
ENST00000527805.5:c.1662_1667delinsTT	ENSP00000435747.1:p.Val555Ter
NM_000051.3:c.1662_1667delinsTT , LRG_135t1:c.1662_1667delinsTT	NP_000042.3:p.Val555Ter
XM_005271561.3:c.1662_1667delinsTT	XP_005271618.2:p.Val555Ter
XM_005271562.3:c.1662_1667delinsTT	XP_005271619.2:p.Val555Ter
XM_006718843.2:c.1662_1667delinsTT	XP_006718906.1:p.Val555Ter
XM_011542840.1:c.1662_1667delinsTT	XP_011541142.1:p.Val555Ter
XM_011542841.1:c.1662_1667delinsTT	XP_011541143.1:p.Val555Ter
XM_011542842.1:c.1497_1502delinsTT	XP_011541144.1:p.Val500Ter
XM_011542843.1:c.1662_1667delinsTT	XP_011541145.1:p.Val555Ter
XM_011542844.1:c.618_623delinsTT	XP_011541146.1:p.Val207Ter
XM_011542845.1:c.354_359delinsTT	XP_011541147.1:p.Val119Ter
XM_011542846.1:c.1662_1667delinsTT	XP_011541148.1:p.Val555Ter
NM_001351834.1:c.1662_1667delinsTT	NP_001338763.1:p.Val555Ter
XM_005271562.5:c.1662_1667delinsTT	XP_005271619.2:p.Val555Ter
XM_006718843.4:c.1662_1667delinsTT	XP_006718906.1:p.Val555Ter
XM_011542840.3:c.1662_1667delinsTT	XP_011541142.1:p.Val555Ter
XM_011542842.3:c.1497_1502delinsTT	XP_011541144.1:p.Val500Ter
XM_011542843.2:c.1662_1667delinsTT	XP_011541145.1:p.Val555Ter
XM_011542844.3:c.618_623delinsTT	XP_011541146.1:p.Val207Ter
XM_011542845.2:c.354_359delinsTT	XP_011541147.1:p.Val119Ter
XM_017017789.2:c.1662_1667delinsTT	XP_016873278.1:p.Val555Ter
XM_017017790.2:c.1662_1667delinsTT	XP_016873279.1:p.Val555Ter
XM_017017791.1:c.1662_1667delinsTT	XP_016873280.1:p.Val555Ter
XM_017017792.2:c.1662_1667delinsTT	XP_016873281.1:p.Val555Ter
XR_002957150.1:n.2395_2400delinsTT
NM_001351834.2:c.1662_1667delinsTT	NP_001338763.1:p.Val555Ter
NM_000051.4:c.1662_1667delinsTT MANE Select	NP_000042.3:p.Val555Ter