Canonical Allele Identifier: CA16613433
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 407478
ClinVar RCV Id: RCV000463805 RCV000486343 RCV001026721
dbSNP Id: rs1060501547
MyVariant Identifiers: chr11:g.108202675_108202678del (hg19) chr11:g.108331948_108331951del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331948_108331951del , CM000673.2:g.108331948_108331951del GRCh38
NC_000011.9:g.108202675_108202678del , CM000673.1:g.108202675_108202678del GRCh37
NC_000011.8:g.107707885_107707888del NCBI36
NG_009830.1:g.114117_114120del , LRG_135:g.114117_114120del
NG_054724.1:g.142884_142887del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.7699_7702del (ATM) ENSP00000388058.2:p.Asn2567GlufsTer5
ENST00000713593.1:c.*7170_*7173del (ATM) ENSP00000518889.1:n.*7170_*7173del
ENST00000278616.9:c.7699_7702del (ATM) ENSP00000278616.4:p.Asn2567GlufsTer5
ENST00000525056.2:n.2118_2121del (ATM)
ENST00000525537.3:n.656_659del (ATM)
ENST00000638786.2:n.536_539del (ATM)
ENST00000682286.1:n.2456_2459del (ATM)
ENST00000682302.1:n.2117_2120del (ATM)
ENST00000683174.1:n.9183_9186del (ATM)
ENST00000683524.1:n.2923_2926del (ATM)
ENST00000684152.1:n.3343+391_3343+394del (ATM)
ENST00000684447.1:n.2483_2486del (ATM)
ENST00000527805.6:c.*2763_*2766del (ATM) ENSP00000435747.2:n.*2763_*2766del
ENST00000675595.1:c.*2834_*2837del (ATM) ENSP00000502563.1:n.*2834_*2837del
ENST00000675843.1:c.7699_7702del (ATM) MANE Select ENSP00000501606.1:p.Asn2567GlufsTer5
ENST00000278616.8:c.7699_7702del (ATM) ENSP00000278616.4:p.Asn2567GlufsTer5
ENST00000452508.6:c.7699_7702del (ATM) ENSP00000388058.2:p.Asn2567GlufsTer5
ENST00000524755.5:c.300-382_300-379del (C11orf65)
ENST00000524792.5:n.3914_3917del (ATM)
ENST00000525729.5:c.641-22878_641-22875del (C11orf65) ENSP00000433395.1:n.641-22878_641-22875de...
ENST00000527531.5:c.*1270-382_*1270-379del (C11orf65) ENSP00000431706.1:n.*1270-382_*1270-379de...
ENST00000533690.5:n.3103_3106del (ATM)
ENST00000615746.4:c.*1270-382_*1270-379del (C11orf65) ENSP00000483537.1:n.*1270-382_*1270-379de...
NM_000051.3:c.7699_7702del , LRG_135t1:c.7699_7702del (ATM) NP_000042.3:p.Asn2567GlufsTer5
XM_005271414.3:c.*39-382_*39-379del (C11orf65) XP_005271471.1:n.*39-382_*39-379del
XM_005271415.3:c.805-382_805-379del (C11orf65) XP_005271472.1:n.805-382_805-379del
XM_005271561.3:c.7699_7702del (ATM) XP_005271618.2:p.Asn2567GlufsTer5
XM_005271562.3:c.7699_7702del (ATM) XP_005271619.2:p.Asn2567GlufsTer5
XM_006718843.2:c.7699_7702del (ATM) XP_006718906.1:p.Asn2567GlufsTer5
XM_006718845.1:c.3655_3658del (ATM) XP_006718908.1:p.Asn1219GlufsTer5
XM_011542840.1:c.7699_7702del (ATM) XP_011541142.1:p.Asn2567GlufsTer5
XM_011542841.1:c.7699_7702del (ATM) XP_011541143.1:p.Asn2567GlufsTer5
XM_011542842.1:c.7534_7537del (ATM) XP_011541144.1:p.Asn2512GlufsTer5
XM_011542843.1:c.7699_7702del (ATM) XP_011541145.1:p.Asn2567GlufsTer5
XM_011542844.1:c.6655_6658del (ATM) XP_011541146.1:p.Asn2219GlufsTer5
XM_011542845.1:c.6391_6394del (ATM) XP_011541147.1:p.Asn2131GlufsTer5
XM_011542847.1:c.2770_2773del (ATM) XP_011541149.1:p.Asn924GlufsTer5
NM_001330368.1:c.641-22878_641-22875del (C11orf65) NP_001317297.1:n.641-22878_641-22875del
NM_001351110.1:c.*38+3271_*38+3274del (C11orf65) NP_001338039.1:n.*38+3271_*38+3274del
NM_001351834.1:c.7699_7702del (ATM) NP_001338763.1:p.Asn2567GlufsTer5
NR_147053.2:n.2375-382_2375-379del (C11orf65)
XM_005271414.4:c.*39-382_*39-379del (C11orf65) XP_005271471.1:n.*39-382_*39-379del
XM_005271415.4:c.805-382_805-379del (C11orf65) XP_005271472.1:n.805-382_805-379del
XM_005271562.5:c.7699_7702del (ATM) XP_005271619.2:p.Asn2567GlufsTer5
XM_006718843.4:c.7699_7702del (ATM) XP_006718906.1:p.Asn2567GlufsTer5
XM_006718845.2:c.3655_3658del (ATM) XP_006718908.1:p.Asn1219GlufsTer5
XM_011542840.3:c.7699_7702del (ATM) XP_011541142.1:p.Asn2567GlufsTer5
XM_011542842.3:c.7534_7537del (ATM) XP_011541144.1:p.Asn2512GlufsTer5
XM_011542843.2:c.7699_7702del (ATM) XP_011541145.1:p.Asn2567GlufsTer5
XM_011542844.3:c.6655_6658del (ATM) XP_011541146.1:p.Asn2219GlufsTer5
XM_011542845.2:c.6391_6394del (ATM) XP_011541147.1:p.Asn2131GlufsTer5
XM_017017789.2:c.7699_7702del (ATM) XP_016873278.1:p.Asn2567GlufsTer5
XM_017017790.2:c.7699_7702del (ATM) XP_016873279.1:p.Asn2567GlufsTer5
NM_001330368.2:c.641-22878_641-22875del (C11orf65) NP_001317297.1:n.641-22878_641-22875del
NM_001351110.2:c.*38+3271_*38+3274del (C11orf65) NP_001338039.1:n.*38+3271_*38+3274del
NM_001351834.2:c.7699_7702del (ATM) NP_001338763.1:p.Asn2567GlufsTer5
NM_000051.4:c.7699_7702del (ATM) MANE Select NP_000042.3:p.Asn2567GlufsTer5
NR_147053.3:n.2373-382_2373-379del (C11orf65)
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