Canonical Allele Identifier: CA6266145
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 232873
ClinVar RCV Id: RCV000219911 RCV000476426
dbSNP Id: rs876660041
ExAC: 11:108202280 ATAATG / A
gnomAD v2: 11-108202280-ATAATG-A
gnomAD v4: 11-108331553-ATAATG-A
MyVariant Identifiers: chr11:g.108202284_108202288del (hg19) chr11:g.108202281_108202285del (hg19) chr11:g.108331557_108331561del (hg38) chr11:g.108331554_108331558del (hg38)
PubMed: PMID:10980530
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331557_108331561del , CM000673.2:g.108331557_108331561del GRCh38
NC_000011.9:g.108202284_108202288del , CM000673.1:g.108202284_108202288del GRCh37
NC_000011.8:g.107707494_107707498del NCBI36
NG_009830.1:g.113726_113730del , LRG_135:g.113726_113730del
NG_054724.1:g.143275_143279del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.7629_7629+4del (ATM)
ENST00000713593.1:c.*7100_*7100+4del (ATM)
ENST00000278616.9:c.7629_7629+4del (ATM)
ENST00000525056.2:n.2048_2048+4del (ATM)
ENST00000525537.3:n.586_586+4del (ATM)
ENST00000638786.2:n.466_466+4del (ATM)
ENST00000682286.1:n.2386_2386+4del (ATM)
ENST00000682302.1:n.2047_2047+4del (ATM)
ENST00000683174.1:n.9113_9113+4del (ATM)
ENST00000683524.1:n.2853_2853+4del (ATM)
ENST00000684152.1:n.3343_3343+4del (ATM)
ENST00000684447.1:n.2092_2096del (ATM)
ENST00000527805.6:c.*2693_*2693+4del (ATM)
ENST00000675595.1:c.*2764_*2764+4del (ATM)
ENST00000675843.1:c.7629_7629+4del (ATM)
ENST00000278616.8:c.7629_7629+4del (ATM)
ENST00000452508.6:c.7629_7629+4del (ATM)
ENST00000524755.5:c.309_313del (C11orf65)
ENST00000524792.5:n.3844_3844+4del (ATM)
ENST00000525729.5:c.641-22487_641-22483del (C11orf65) ENSP00000433395.1:n.641-22487_641-22483del
ENST00000527531.5:c.*1279_*1283del (C11orf65) ENSP00000431706.1:n.*1279_*1283del
ENST00000533690.5:n.3033_3033+4del (ATM)
ENST00000615746.4:c.*1279_*1283del (C11orf65) ENSP00000483537.1:n.*1279_*1283del
NM_000051.3:c.7629_7629+4del , LRG_135t1:c.7629_7629+4del (ATM)
XM_005271414.3:c.*48_*52del (C11orf65) XP_005271471.1:n.*48_*52del
XM_005271415.3:c.814_818del (C11orf65) XP_005271472.1:p.His272LeufsTer5
XM_005271561.3:c.7629_7629+4del (ATM)
XM_005271562.3:c.7629_7629+4del (ATM)
XM_006718843.2:c.7629_7629+4del (ATM)
XM_006718845.1:c.3585_3585+4del (ATM)
XM_011542840.1:c.7629_7629+4del (ATM)
XM_011542841.1:c.7629_7629+4del (ATM)
XM_011542842.1:c.7464_7464+4del (ATM)
XM_011542843.1:c.7629_7629+4del (ATM)
XM_011542844.1:c.6585_6585+4del (ATM)
XM_011542845.1:c.6321_6321+4del (ATM)
XM_011542847.1:c.2700_2700+4del (ATM)
NM_001330368.1:c.641-22487_641-22483del (C11orf65) NP_001317297.1:n.641-22487_641-22483del
NM_001351110.1:c.*38+3662_*38+3666del (C11orf65) NP_001338039.1:n.*38+3662_*38+3666del
NM_001351834.1:c.7629_7629+4del (ATM)
NR_147053.2:n.2384_2388del (C11orf65)
XM_005271414.4:c.*48_*52del (C11orf65) XP_005271471.1:n.*48_*52del
XM_005271415.4:c.814_818del (C11orf65) XP_005271472.1:p.His272LeufsTer5
XM_005271562.5:c.7629_7629+4del (ATM)
XM_006718843.4:c.7629_7629+4del (ATM)
XM_006718845.2:c.3585_3585+4del (ATM)
XM_011542840.3:c.7629_7629+4del (ATM)
XM_011542842.3:c.7464_7464+4del (ATM)
XM_011542843.2:c.7629_7629+4del (ATM)
XM_011542844.3:c.6585_6585+4del (ATM)
XM_011542845.2:c.6321_6321+4del (ATM)
XM_017017789.2:c.7629_7629+4del (ATM)
XM_017017790.2:c.7629_7629+4del (ATM)
NM_001330368.2:c.641-22487_641-22483del (C11orf65) NP_001317297.1:n.641-22487_641-22483del
NM_001351110.2:c.*38+3662_*38+3666del (C11orf65) NP_001338039.1:n.*38+3662_*38+3666del
NM_001351834.2:c.7629_7629+4del (ATM)
NM_000051.4:c.7629_7629+4del (ATM)
NR_147053.3:n.2382_2386del (C11orf65)
Search 100 bp 5'
Search 100 bp 3'