Canonical Allele Identifier: CA2615862740
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108333895del , CM000673.2:g.108333895del GRCh38
NC_000011.9:g.108204622del , CM000673.1:g.108204622del GRCh37
NC_000011.8:g.107709832del NCBI36
NG_009830.1:g.116064del , LRG_135:g.116064del
NG_054724.1:g.140940del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7937del (ATM) ENSP00000388058.2:p.Asn2646IlefsTer14
ENST00000713593.1:c.*7408del (ATM) ENSP00000518889.1:n.*7408del
ENST00000278616.9:c.7937del (ATM) ENSP00000278616.4:p.Asn2646IlefsTer14
ENST00000525056.2:n.2356del (ATM)
ENST00000638786.2:n.635del (ATM)
ENST00000682286.1:n.2694del (ATM)
ENST00000682302.1:n.2355del (ATM)
ENST00000683174.1:n.9421del (ATM)
ENST00000683524.1:n.3161del (ATM)
ENST00000684152.1:n.3353del (ATM)
ENST00000684180.1:n.411del (ATM)
ENST00000684447.1:n.4430del (ATM)
ENST00000527805.6:c.*3001del (ATM) ENSP00000435747.2:n.*3001del
ENST00000675595.1:c.*3072del (ATM) ENSP00000502563.1:n.*3072del
ENST00000675843.1:c.7937del (ATM) MANE Select ENSP00000501606.1:p.Asn2646IlefsTer14
ENST00000278616.8:c.7937del (ATM) ENSP00000278616.4:p.Asn2646IlefsTer14
ENST00000452508.6:c.7937del (ATM) ENSP00000388058.2:p.Asn2646IlefsTer14
ENST00000524755.5:c.299+1327del (C11orf65)
ENST00000524792.5:n.4152del (ATM)
ENST00000525056.1:n.134del (ATM)
ENST00000525729.5:c.641-24822del (C11orf65) ENSP00000433395.1:n.641-24822del
ENST00000527531.5:c.*1269+1327del (C11orf65) ENSP00000431706.1:n.*1269+1327del
ENST00000533690.5:n.3341del (ATM)
ENST00000533979.5:n.149del (ATM)
ENST00000615746.4:c.*1269+1327del (C11orf65) ENSP00000483537.1:n.*1269+1327del
NM_000051.3:c.7937del , LRG_135t1:c.7937del (ATM) NP_000042.3:p.Asn2646IlefsTer14
XM_005271414.3:c.*38+1327del (C11orf65) XP_005271471.1:n.*38+1327del
XM_005271415.3:c.804+1327del (C11orf65) XP_005271472.1:n.804+1327del
XM_005271561.3:c.7937del (ATM) XP_005271618.2:p.Asn2646IlefsTer14
XM_005271562.3:c.7937del (ATM) XP_005271619.2:p.Asn2646IlefsTer14
XM_006718843.2:c.7937del (ATM) XP_006718906.1:p.Asn2646IlefsTer14
XM_006718845.1:c.3893del (ATM) XP_006718908.1:p.Asn1298IlefsTer14
XM_011542840.1:c.7937del (ATM) XP_011541142.1:p.Asn2646IlefsTer14
XM_011542841.1:c.7937del (ATM) XP_011541143.1:p.Asn2646IlefsTer14
XM_011542842.1:c.7772del (ATM) XP_011541144.1:p.Asn2591IlefsTer14
XM_011542843.1:c.7937del (ATM) XP_011541145.1:p.Asn2646IlefsTer14
XM_011542844.1:c.6893del (ATM) XP_011541146.1:p.Asn2298IlefsTer14
XM_011542845.1:c.6629del (ATM) XP_011541147.1:p.Asn2210IlefsTer14
XM_011542847.1:c.3008del (ATM) XP_011541149.1:p.Asn1003IlefsTer14
NM_001330368.1:c.641-24822del (C11orf65) NP_001317297.1:n.641-24822del
NM_001351110.1:c.*38+1327del (C11orf65) NP_001338039.1:n.*38+1327del
NM_001351834.1:c.7937del (ATM) NP_001338763.1:p.Asn2646IlefsTer14
NR_147053.2:n.2374+1327del (C11orf65)
XM_005271414.4:c.*38+1327del (C11orf65) XP_005271471.1:n.*38+1327del
XM_005271415.4:c.804+1327del (C11orf65) XP_005271472.1:n.804+1327del
XM_005271562.5:c.7937del (ATM) XP_005271619.2:p.Asn2646IlefsTer14
XM_006718843.4:c.7937del (ATM) XP_006718906.1:p.Asn2646IlefsTer14
XM_006718845.2:c.3893del (ATM) XP_006718908.1:p.Asn1298IlefsTer14
XM_011542840.3:c.7937del (ATM) XP_011541142.1:p.Asn2646IlefsTer14
XM_011542842.3:c.7772del (ATM) XP_011541144.1:p.Asn2591IlefsTer14
XM_011542843.2:c.7937del (ATM) XP_011541145.1:p.Asn2646IlefsTer14
XM_011542844.3:c.6893del (ATM) XP_011541146.1:p.Asn2298IlefsTer14
XM_011542845.2:c.6629del (ATM) XP_011541147.1:p.Asn2210IlefsTer14
XM_017017789.2:c.7937del (ATM) XP_016873278.1:p.Asn2646IlefsTer14
XM_017017790.2:c.7937del (ATM) XP_016873279.1:p.Asn2646IlefsTer14
NM_001330368.2:c.641-24822del (C11orf65) NP_001317297.1:n.641-24822del
NM_001351110.2:c.*38+1327del (C11orf65) NP_001338039.1:n.*38+1327del
NM_001351834.2:c.7937del (ATM) NP_001338763.1:p.Asn2646IlefsTer14
NM_000051.4:c.7937del (ATM) MANE Select NP_000042.3:p.Asn2646IlefsTer14
NR_147053.3:n.2372+1327del (C11orf65)