Canonical Allele Identifier: CA16613164
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

ClinVar Variation Id: 407605
ClinVar RCV Id: RCV001185536
dbSNP Id: rs1060501630

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108343274_108343275delinsA , CM000673.2:g.108343274_108343275delinsA GRCh38
NC_000011.9:g.108214001_108214002delinsA , CM000673.1:g.108214001_108214002delinsA GRCh37
NC_000011.8:g.107719211_107719212delinsA NCBI36
NG_009830.1:g.125443_125444delinsA , LRG_135:g.125443_125444delinsA
NG_054724.1:g.131558_131559delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.8321_8322delinsA (ATM) ENSP00000388058.2:p.Val2774AspfsTer?
ENST00000713593.1:c.*7792_*7793delinsA (ATM) ENSP00000518889.1:n.*7792_*7793delinsA
ENST00000278616.9:c.8321_8322delinsA (ATM) ENSP00000278616.4:p.Val2774AspfsTer?
ENST00000638786.2:n.1019_1020delinsA (ATM)
ENST00000682286.1:n.3078_3079delinsA (ATM)
ENST00000682302.1:n.2739_2740delinsA (ATM)
ENST00000683174.1:n.9805_9806delinsA (ATM)
ENST00000683524.1:n.3545_3546delinsA (ATM)
ENST00000684152.1:n.3737_3738delinsA (ATM)
ENST00000684180.1:n.795_796delinsA (ATM)
ENST00000684447.1:n.4814_4815delinsA (ATM)
ENST00000527805.6:c.*3385_*3386delinsA (ATM) ENSP00000435747.2:n.*3385_*3386delinsA
ENST00000675595.1:c.*3456_*3457delinsA (ATM) ENSP00000502563.1:n.*3456_*3457delinsA
ENST00000675843.1:c.8321_8322delinsA (ATM) MANE Select ENSP00000501606.1:p.Val2774AspfsTer?
ENST00000278616.8:c.8321_8322delinsA (ATM) ENSP00000278616.4:p.Val2774AspfsTer?
ENST00000452508.6:c.8321_8322delinsA (ATM) ENSP00000388058.2:p.Val2774AspfsTer?
ENST00000524755.5:c.227-7983_227-7982delinsT (C11orf65)
ENST00000524792.5:n.4536_4537delinsA (ATM)
ENST00000525729.5:c.641-34204_641-34203delinsT (C11orf65) ENSP00000433395.1:n.641-34204_641-34203de...
ENST00000526725.1:n.272-2911_272-2910delinsT (C11orf65)
ENST00000527531.5:c.*1197-7983_*1197-7982delinsT (C11orf65) ENSP00000431706.1:n.*1197-7983_*1197-7982...
ENST00000615746.4:c.*1197-7983_*1197-7982delinsT (C11orf65) ENSP00000483537.1:n.*1197-7983_*1197-7982...
NM_000051.3:c.8321_8322delinsA , LRG_135t1:c.8321_8322delinsA (ATM) NP_000042.3:p.Val2774AspfsTer?
XM_005271414.3:c.788-7983_788-7982delinsT (C11orf65) XP_005271471.1:n.788-7983_788-7982delinsT...
XM_005271415.3:c.732-7983_732-7982delinsT (C11orf65) XP_005271472.1:n.732-7983_732-7982delinsT...
XM_005271561.3:c.8321_8322delinsA (ATM) XP_005271618.2:p.Val2774AspfsTer?
XM_005271562.3:c.8321_8322delinsA (ATM) XP_005271619.2:p.Val2774AspfsTer?
XM_006718843.2:c.8321_8322delinsA (ATM) XP_006718906.1:p.Val2774AspfsTer?
XM_006718845.1:c.4277_4278delinsA (ATM) XP_006718908.1:p.Val1426AspfsTer?
XM_011542640.1:c.788-2911_788-2910delinsT (C11orf65) XP_011540942.1:n.788-2911_788-2910delinsT...
XM_011542643.1:c.732-2911_732-2910delinsT (C11orf65) XP_011540945.1:n.732-2911_732-2910delinsT...
XM_011542840.1:c.8321_8322delinsA (ATM) XP_011541142.1:p.Val2774AspfsTer?
XM_011542841.1:c.8321_8322delinsA (ATM) XP_011541143.1:p.Val2774AspfsTer?
XM_011542842.1:c.8156_8157delinsA (ATM) XP_011541144.1:p.Val2719AspfsTer?
XM_011542843.1:c.8321_8322delinsA (ATM) XP_011541145.1:p.Val2774AspfsTer?
XM_011542844.1:c.7277_7278delinsA (ATM) XP_011541146.1:p.Val2426AspfsTer?
XM_011542845.1:c.7013_7014delinsA (ATM) XP_011541147.1:p.Val2338AspfsTer?
XM_011542847.1:c.3392_3393delinsA (ATM) XP_011541149.1:p.Val1131AspfsTer?
NM_001330368.1:c.641-34204_641-34203delinsT (C11orf65) NP_001317297.1:n.641-34204_641-34203delin...
NM_001351110.1:c.695-7983_695-7982delinsT (C11orf65) NP_001338039.1:n.695-7983_695-7982delinsT...
NM_001351834.1:c.8321_8322delinsA (ATM) NP_001338763.1:p.Val2774AspfsTer?
NR_147053.2:n.2302-7983_2302-7982delinsT (C11orf65)
XM_005271414.4:c.788-7983_788-7982delinsT (C11orf65) XP_005271471.1:n.788-7983_788-7982delinsT...
XM_005271415.4:c.732-7983_732-7982delinsT (C11orf65) XP_005271472.1:n.732-7983_732-7982delinsT...
XM_005271562.5:c.8321_8322delinsA (ATM) XP_005271619.2:p.Val2774AspfsTer?
XM_006718843.4:c.8321_8322delinsA (ATM) XP_006718906.1:p.Val2774AspfsTer?
XM_006718845.2:c.4277_4278delinsA (ATM) XP_006718908.1:p.Val1426AspfsTer?
XM_011542640.2:c.788-2911_788-2910delinsT (C11orf65) XP_011540942.1:n.788-2911_788-2910delinsT...
XM_011542643.2:c.732-2911_732-2910delinsT (C11orf65) XP_011540945.1:n.732-2911_732-2910delinsT...
XM_011542840.3:c.8321_8322delinsA (ATM) XP_011541142.1:p.Val2774AspfsTer?
XM_011542842.3:c.8156_8157delinsA (ATM) XP_011541144.1:p.Val2719AspfsTer?
XM_011542843.2:c.8321_8322delinsA (ATM) XP_011541145.1:p.Val2774AspfsTer?
XM_011542844.3:c.7277_7278delinsA (ATM) XP_011541146.1:p.Val2426AspfsTer?
XM_011542845.2:c.7013_7014delinsA (ATM) XP_011541147.1:p.Val2338AspfsTer?
XM_017017247.1:c.904-2911_904-2910delinsT (C11orf65) XP_016872736.1:n.904-2911_904-2910delinsT...
XM_017017789.2:c.8321_8322delinsA (ATM) XP_016873278.1:p.Val2774AspfsTer?
XM_017017790.2:c.8321_8322delinsA (ATM) XP_016873279.1:p.Val2774AspfsTer?
NM_001330368.2:c.641-34204_641-34203delinsT (C11orf65) NP_001317297.1:n.641-34204_641-34203delin...
NM_001351110.2:c.695-7983_695-7982delinsT (C11orf65) NP_001338039.1:n.695-7983_695-7982delinsT...
NM_001351834.2:c.8321_8322delinsA (ATM) NP_001338763.1:p.Val2774AspfsTer?
NM_000051.4:c.8321_8322delinsA (ATM) MANE Select NP_000042.3:p.Val2774AspfsTer?
NR_147053.3:n.2300-7983_2300-7982delinsT (C11orf65)