Canonical Allele Identifier: CA16041428
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370576
dbSNP Id: rs1057516599

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332853del , CM000673.2:g.108332853del GRCh38
NC_000011.9:g.108203580del , CM000673.1:g.108203580del GRCh37
NC_000011.8:g.107708790del NCBI36
NG_009830.1:g.115022del , LRG_135:g.115022del
NG_054724.1:g.141980del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.7880del , LRG_135t1:c.7880del (ATM) NP_000042.3:p.Tyr2627LeufsTer4
XM_005271414.3:c.*39-1286del (C11orf65) XP_005271471.1:p.=
XM_005271415.3:c.805-1286del (C11orf65) XP_005271472.1:p.=
XM_005271561.3:c.7880del (ATM) XP_005271618.2:p.Tyr2627LeufsTer4
XM_005271562.3:c.7880del (ATM) XP_005271619.2:p.Tyr2627LeufsTer4
XM_006718843.2:c.7880del (ATM) XP_006718906.1:p.Tyr2627LeufsTer4
XM_006718845.1:c.3836del (ATM) XP_006718908.1:p.Tyr1279LeufsTer4
XM_011542840.1:c.7880del (ATM) XP_011541142.1:p.Tyr2627LeufsTer4
XM_011542841.1:c.7880del (ATM) XP_011541143.1:p.Tyr2627LeufsTer4
XM_011542842.1:c.7715del (ATM) XP_011541144.1:p.Tyr2572LeufsTer4
XM_011542843.1:c.7880del (ATM) XP_011541145.1:p.Tyr2627LeufsTer4
XM_011542844.1:c.6836del (ATM) XP_011541146.1:p.Tyr2279LeufsTer4
XM_011542845.1:c.6572del (ATM) XP_011541147.1:p.Tyr2191LeufsTer4
XM_011542847.1:c.2951del (ATM) XP_011541149.1:p.Tyr984LeufsTer4
NM_001330368.1:c.641-23782del (C11orf65) VV NP_001317297.1:p.=
NM_001351110.1:c.*38+2367del (C11orf65) VV NP_001338039.1:p.=
NM_001351834.1:c.7880del (ATM) VV NP_001338763.1:p.Tyr2627LeufsTer4
NR_147053.2:n.2375-1286del (C11orf65)
XM_005271414.4:c.*39-1286del (C11orf65)
XM_005271415.4:c.805-1286del (C11orf65)
XM_005271562.5:c.7880del (ATM)
XM_006718843.4:c.7880del (ATM)
XM_006718845.2:c.3836del (ATM)
XM_011542840.3:c.7880del (ATM)
XM_011542842.3:c.7715del (ATM)
XM_011542843.2:c.7880del (ATM)
XM_011542844.3:c.6836del (ATM)
XM_011542845.2:c.6572del (ATM)
XM_017017789.2:c.7880del (ATM) XP_016873278.1:p.Tyr2627LeufsTer4
XM_017017790.2:c.7880del (ATM) XP_016873279.1:p.Tyr2627LeufsTer4
ENST00000278616.8:c.7880del ENSP00000278616.4:p.Tyr2627LeufsTer4
ENST00000452508.6:c.7880del ENSP00000388058.2:p.Tyr2627LeufsTer4
ENST00000524755.5:n.300-1286del
ENST00000524792.5:n.4095del
ENST00000525056.1:n.77del
ENST00000525729.5:c.641-23782del ENSP00000433395.1:p.=
ENST00000527531.5:c.*1270-1286del ENSP00000431706.1:p.=
ENST00000533690.5:n.3284del
ENST00000533979.5:n.92del
ENST00000615746.4:c.*1270-1286del ENSP00000483537.1:p.=