Canonical Allele Identifier: CA16619220
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 420013
ClinVar RCV Id: RCV000481474
dbSNP Id: rs1064794237

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108325473_108325492delinsCA , CM000673.2:g.108325473_108325492delinsCA GRCh38
NC_000011.9:g.108196200_108196219delinsCA , CM000673.1:g.108196200_108196219delinsCA GRCh37
NC_000011.8:g.107701410_107701429delinsCA NCBI36
NG_009830.1:g.107642_107661delinsCA , LRG_135:g.107642_107661delinsCA
NG_054724.1:g.149341_149360delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.6736_6755delinsCA (ATM) ENSP00000388058.2:p.Cys2246_Thr2252delins...
ENST00000713593.1:c.*6207_*6226delinsCA (ATM) ENSP00000518889.1:n.*6207_*6226delinsCA
ENST00000278616.9:c.6736_6755delinsCA (ATM) ENSP00000278616.4:p.Cys2246_Thr2252delins...
ENST00000525056.2:n.1155_1174delinsCA (ATM)
ENST00000682286.1:n.1493_1512delinsCA (ATM)
ENST00000682302.1:n.1154_1173delinsCA (ATM)
ENST00000683174.1:n.8220_8239delinsCA (ATM)
ENST00000683524.1:n.1960_1979delinsCA (ATM)
ENST00000684152.1:n.2450_2469delinsCA (ATM)
ENST00000527805.6:c.*1800_*1819delinsCA (ATM) ENSP00000435747.2:n.*1800_*1819delinsCA
ENST00000675595.1:c.*1871_*1890delinsCA (ATM) ENSP00000502563.1:n.*1871_*1890delinsCA
ENST00000675843.1:c.6736_6755delinsCA (ATM) MANE Select ENSP00000501606.1:p.Cys2246_Thr2252delins...
ENST00000278616.8:c.6736_6755delinsCA (ATM) ENSP00000278616.4:p.Cys2246_Thr2252delins...
ENST00000452508.6:c.6736_6755delinsCA (ATM) ENSP00000388058.2:p.Cys2246_Thr2252delins...
ENST00000524792.5:n.2951_2970delinsCA (ATM)
ENST00000525729.5:c.641-16421_641-16402delinsTG (C11orf65) ENSP00000433395.1:n.641-16421_641-16402de...
ENST00000533690.5:n.2140_2159delinsCA (ATM)
NM_000051.3:c.6736_6755delinsCA , LRG_135t1:c.6736_6755delinsCA (ATM) NP_000042.3:p.Cys2246_Thr2252delinsHis
XM_005271561.3:c.6736_6755delinsCA (ATM) XP_005271618.2:p.Cys2246_Thr2252delinsHis...
XM_005271562.3:c.6736_6755delinsCA (ATM) XP_005271619.2:p.Cys2246_Thr2252delinsHis...
XM_006718843.2:c.6736_6755delinsCA (ATM) XP_006718906.1:p.Cys2246_Thr2252delinsHis...
XM_006718845.1:c.2692_2711delinsCA (ATM) XP_006718908.1:p.Cys898_Thr904delinsHis
XM_011542840.1:c.6736_6755delinsCA (ATM) XP_011541142.1:p.Cys2246_Thr2252delinsHis...
XM_011542841.1:c.6736_6755delinsCA (ATM) XP_011541143.1:p.Cys2246_Thr2252delinsHis...
XM_011542842.1:c.6571_6590delinsCA (ATM) XP_011541144.1:p.Cys2191_Thr2197delinsHis...
XM_011542843.1:c.6736_6755delinsCA (ATM) XP_011541145.1:p.Cys2246_Thr2252delinsHis...
XM_011542844.1:c.5692_5711delinsCA (ATM) XP_011541146.1:p.Cys1898_Thr1904delinsHis...
XM_011542845.1:c.5428_5447delinsCA (ATM) XP_011541147.1:p.Cys1810_Thr1816delinsHis...
XM_011542847.1:c.1807_1826delinsCA (ATM) XP_011541149.1:p.Cys603_Thr609delinsHis
NM_001330368.1:c.641-16421_641-16402delinsTG (C11orf65) NP_001317297.1:n.641-16421_641-16402delin...
NM_001351110.1:c.*38+9728_*38+9747delinsTG (C11orf65) NP_001338039.1:n.*38+9728_*38+9747delinsT...
NM_001351834.1:c.6736_6755delinsCA (ATM) NP_001338763.1:p.Cys2246_Thr2252delinsHis...
XM_005271562.5:c.6736_6755delinsCA (ATM) XP_005271619.2:p.Cys2246_Thr2252delinsHis...
XM_006718843.4:c.6736_6755delinsCA (ATM) XP_006718906.1:p.Cys2246_Thr2252delinsHis...
XM_006718845.2:c.2692_2711delinsCA (ATM) XP_006718908.1:p.Cys898_Thr904delinsHis
XM_011542840.3:c.6736_6755delinsCA (ATM) XP_011541142.1:p.Cys2246_Thr2252delinsHis...
XM_011542842.3:c.6571_6590delinsCA (ATM) XP_011541144.1:p.Cys2191_Thr2197delinsHis...
XM_011542843.2:c.6736_6755delinsCA (ATM) XP_011541145.1:p.Cys2246_Thr2252delinsHis...
XM_011542844.3:c.5692_5711delinsCA (ATM) XP_011541146.1:p.Cys1898_Thr1904delinsHis...
XM_011542845.2:c.5428_5447delinsCA (ATM) XP_011541147.1:p.Cys1810_Thr1816delinsHis...
XM_017017789.2:c.6736_6755delinsCA (ATM) XP_016873278.1:p.Cys2246_Thr2252delinsHis...
XM_017017790.2:c.6736_6755delinsCA (ATM) XP_016873279.1:p.Cys2246_Thr2252delinsHis...
NM_001330368.2:c.641-16421_641-16402delinsTG (C11orf65) NP_001317297.1:n.641-16421_641-16402delin...
NM_001351110.2:c.*38+9728_*38+9747delinsTG (C11orf65) NP_001338039.1:n.*38+9728_*38+9747delinsT...
NM_001351834.2:c.6736_6755delinsCA (ATM) NP_001338763.1:p.Cys2246_Thr2252delinsHis...
NM_000051.4:c.6736_6755delinsCA (ATM) MANE Select NP_000042.3:p.Cys2246_Thr2252delinsHis