Canonical Allele Identifier: CA16619246
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 418746
ClinVar RCV Id: RCV000480632 RCV001193039
dbSNP Id: rs1064793406
gnomAD v4: 11-108335060-TAA-T
MyVariant Identifiers: chr11:g.108205788_108205789del (hg19) chr11:g.108335061_108335062del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108335061_108335062del , CM000673.2:g.108335061_108335062del GRCh38
NC_000011.9:g.108205788_108205789del , CM000673.1:g.108205788_108205789del GRCh37
NC_000011.8:g.107710998_107710999del NCBI36
NG_009830.1:g.117230_117231del , LRG_135:g.117230_117231del
NG_054724.1:g.139771_139772del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.8103_8104del (ATM) ENSP00000388058.2:p.Ile2702ArgfsTer15
ENST00000713593.1:c.*7574_*7575del (ATM) ENSP00000518889.1:n.*7574_*7575del
ENST00000278616.9:c.8103_8104del (ATM) ENSP00000278616.4:p.Ile2702ArgfsTer15
ENST00000525056.2:n.2522_2523del (ATM)
ENST00000638786.2:n.801_802del (ATM)
ENST00000682286.1:n.2860_2861del (ATM)
ENST00000682302.1:n.2521_2522del (ATM)
ENST00000683174.1:n.9587_9588del (ATM)
ENST00000683524.1:n.3327_3328del (ATM)
ENST00000684152.1:n.3519_3520del (ATM)
ENST00000684180.1:n.577_578del (ATM)
ENST00000684447.1:n.4596_4597del (ATM)
ENST00000527805.6:c.*3167_*3168del (ATM) ENSP00000435747.2:n.*3167_*3168del
ENST00000675595.1:c.*3238_*3239del (ATM) ENSP00000502563.1:n.*3238_*3239del
ENST00000675843.1:c.8103_8104del (ATM) MANE Select ENSP00000501606.1:p.Ile2702ArgfsTer15
ENST00000278616.8:c.8103_8104del (ATM) ENSP00000278616.4:p.Ile2702ArgfsTer15
ENST00000452508.6:c.8103_8104del (ATM) ENSP00000388058.2:p.Ile2702ArgfsTer15
ENST00000524755.5:c.299+158_299+159del (C11orf65)
ENST00000524792.5:n.4318_4319del (ATM)
ENST00000525056.1:n.300_301del (ATM)
ENST00000525729.5:c.641-25991_641-25990del (C11orf65) ENSP00000433395.1:n.641-25991_641-25990de...
ENST00000527531.5:c.*1269+158_*1269+159del (C11orf65) ENSP00000431706.1:n.*1269+158_*1269+159de...
ENST00000533979.5:n.315_316del (ATM)
ENST00000615746.4:c.*1269+158_*1269+159del (C11orf65) ENSP00000483537.1:n.*1269+158_*1269+159de...
NM_000051.3:c.8103_8104del , LRG_135t1:c.8103_8104del (ATM) NP_000042.3:p.Ile2702ArgfsTer15
XM_005271414.3:c.*38+158_*38+159del (C11orf65) XP_005271471.1:n.*38+158_*38+159del
XM_005271415.3:c.804+158_804+159del (C11orf65) XP_005271472.1:n.804+158_804+159del
XM_005271561.3:c.8103_8104del (ATM) XP_005271618.2:p.Ile2702ArgfsTer15
XM_005271562.3:c.8103_8104del (ATM) XP_005271619.2:p.Ile2702ArgfsTer15
XM_006718843.2:c.8103_8104del (ATM) XP_006718906.1:p.Ile2702ArgfsTer15
XM_006718845.1:c.4059_4060del (ATM) XP_006718908.1:p.Ile1354ArgfsTer15
XM_011542840.1:c.8103_8104del (ATM) XP_011541142.1:p.Ile2702ArgfsTer15
XM_011542841.1:c.8103_8104del (ATM) XP_011541143.1:p.Ile2702ArgfsTer15
XM_011542842.1:c.7938_7939del (ATM) XP_011541144.1:p.Ile2647ArgfsTer15
XM_011542843.1:c.8103_8104del (ATM) XP_011541145.1:p.Ile2702ArgfsTer15
XM_011542844.1:c.7059_7060del (ATM) XP_011541146.1:p.Ile2354ArgfsTer15
XM_011542845.1:c.6795_6796del (ATM) XP_011541147.1:p.Ile2266ArgfsTer15
XM_011542847.1:c.3174_3175del (ATM) XP_011541149.1:p.Ile1059ArgfsTer15
NM_001330368.1:c.641-25991_641-25990del (C11orf65) NP_001317297.1:n.641-25991_641-25990del
NM_001351110.1:c.*38+158_*38+159del (C11orf65) NP_001338039.1:n.*38+158_*38+159del
NM_001351834.1:c.8103_8104del (ATM) NP_001338763.1:p.Ile2702ArgfsTer15
NR_147053.2:n.2374+158_2374+159del (C11orf65)
XM_005271414.4:c.*38+158_*38+159del (C11orf65) XP_005271471.1:n.*38+158_*38+159del
XM_005271415.4:c.804+158_804+159del (C11orf65) XP_005271472.1:n.804+158_804+159del
XM_005271562.5:c.8103_8104del (ATM) XP_005271619.2:p.Ile2702ArgfsTer15
XM_006718843.4:c.8103_8104del (ATM) XP_006718906.1:p.Ile2702ArgfsTer15
XM_006718845.2:c.4059_4060del (ATM) XP_006718908.1:p.Ile1354ArgfsTer15
XM_011542840.3:c.8103_8104del (ATM) XP_011541142.1:p.Ile2702ArgfsTer15
XM_011542842.3:c.7938_7939del (ATM) XP_011541144.1:p.Ile2647ArgfsTer15
XM_011542843.2:c.8103_8104del (ATM) XP_011541145.1:p.Ile2702ArgfsTer15
XM_011542844.3:c.7059_7060del (ATM) XP_011541146.1:p.Ile2354ArgfsTer15
XM_011542845.2:c.6795_6796del (ATM) XP_011541147.1:p.Ile2266ArgfsTer15
XM_017017789.2:c.8103_8104del (ATM) XP_016873278.1:p.Ile2702ArgfsTer15
XM_017017790.2:c.8103_8104del (ATM) XP_016873279.1:p.Ile2702ArgfsTer15
NM_001330368.2:c.641-25991_641-25990del (C11orf65) NP_001317297.1:n.641-25991_641-25990del
NM_001351110.2:c.*38+158_*38+159del (C11orf65) NP_001338039.1:n.*38+158_*38+159del
NM_001351834.2:c.8103_8104del (ATM) NP_001338763.1:p.Ile2702ArgfsTer15
NM_000051.4:c.8103_8104del (ATM) MANE Select NP_000042.3:p.Ile2702ArgfsTer15
NR_147053.3:n.2372+158_2372+159del (C11orf65)
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