Canonical Allele Identifier: CA293967
Community Standard Title: NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108345889_108345890delinsAA , CM000673.2:g.108345889_108345890delinsAA GRCh38
NC_000011.9:g.108216616_108216617delinsAA , CM000673.1:g.108216616_108216617delinsAA GRCh37
NC_000011.8:g.107721826_107721827delinsAA NCBI36
NG_009830.1:g.128058_128059delinsAA , LRG_135:g.128058_128059delinsAA
NG_054724.1:g.128943_128944delinsTT

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.8565_8566delinsAA (ATM) MANE Select NP_000042.3:p.Ser2855_Val2856delinsArgIle
ENST00000675843.1:c.8565_8566delinsAA (ATM) MANE Select ENSP00000501606.1:p.Ser2855_Val2856delinsArgIle
NM_000051.3:c.8565_8566delinsAA , LRG_135t1:c.8565_8566delinsAA (ATM) NP_000042.3:p.Ser2855_Val2856delinsArgIle
NM_001330368.1:c.641-36819_641-36818delinsTT (C11orf65) NP_001317297.1:n.641-36819_641-36818delinsTT
NM_001330368.2:c.641-36819_641-36818delinsTT (C11orf65) NP_001317297.1:n.641-36819_641-36818delinsTT
NM_001351110.1:c.695-10598_695-10597delinsTT (C11orf65) NP_001338039.1:n.695-10598_695-10597delinsTT
NM_001351110.2:c.695-10598_695-10597delinsTT (C11orf65) NP_001338039.1:n.695-10598_695-10597delinsTT
NM_001351834.1:c.8565_8566delinsAA (ATM) NP_001338763.1:p.Ser2855_Val2856delinsArgIle
NM_001351834.2:c.8565_8566delinsAA (ATM) NP_001338763.1:p.Ser2855_Val2856delinsArgIle
NR_147053.2:n.2301+9025_2301+9026delinsTT (C11orf65)
NR_147053.3:n.2299+9025_2299+9026delinsTT (C11orf65)
ENST00000278616.8:c.8565_8566delinsAA (ATM) ENSP00000278616.4:p.Ser2855_Val2856delinsArgIle
ENST00000278616.9:c.8565_8566delinsAA (ATM) ENSP00000278616.4:p.Ser2855_Val2856delinsArgIle
ENST00000452508.6:c.8565_8566delinsAA (ATM) ENSP00000388058.2:p.Ser2855_Val2856delinsArgIle
ENST00000452508.7:c.8565_8566delinsAA (ATM) ENSP00000388058.2:p.Ser2855_Val2856delinsArgIle
ENST00000524755.5:c.227-10598_227-10597delinsTT (C11orf65)
ENST00000524792.5:n.4780_4781delinsAA (ATM)
ENST00000525729.5:c.641-36819_641-36818delinsTT (C11orf65) ENSP00000433395.1:n.641-36819_641-36818delinsTT
ENST00000526725.1:n.272-5526_272-5525delinsTT (C11orf65)
ENST00000527531.5:c.*1196+9025_*1196+9026delinsTT (C11orf65) ENSP00000431706.1:n.*1196+9025_*1196+9026delinsTT
ENST00000527805.6:c.*3629_*3630delinsAA (ATM) ENSP00000435747.2:n.*3629_*3630delinsAA
ENST00000615746.4:c.*1196+9025_*1196+9026delinsTT (C11orf65) ENSP00000483537.1:n.*1196+9025_*1196+9026delinsTT
ENST00000638786.2:n.1263_1264delinsAA (ATM)
ENST00000675595.1:c.*3700_*3701delinsAA (ATM) ENSP00000502563.1:n.*3700_*3701delinsAA
ENST00000682286.1:n.3322_3323delinsAA (ATM)
ENST00000682302.1:n.2983_2984delinsAA (ATM)
ENST00000683174.1:n.10049_10050delinsAA (ATM)
ENST00000683524.1:n.3789_3790delinsAA (ATM)
ENST00000684152.1:n.3981_3982delinsAA (ATM)
ENST00000684180.1:n.1039_1040delinsAA (ATM)
ENST00000684447.1:n.5058_5059delinsAA (ATM)
ENST00000713593.1:c.*8036_*8037delinsAA (ATM) ENSP00000518889.1:n.*8036_*8037delinsAA
XM_005271414.3:c.788-10598_788-10597delinsTT (C11orf65) XP_005271471.1:n.788-10598_788-10597delinsTT
XM_005271414.4:c.788-10598_788-10597delinsTT (C11orf65) XP_005271471.1:n.788-10598_788-10597delinsTT
XM_005271415.3:c.732-10598_732-10597delinsTT (C11orf65) XP_005271472.1:n.732-10598_732-10597delinsTT
XM_005271415.4:c.732-10598_732-10597delinsTT (C11orf65) XP_005271472.1:n.732-10598_732-10597delinsTT
XM_005271561.3:c.8565_8566delinsAA (ATM) XP_005271618.2:p.Ser2855_Val2856delinsArgIle
XM_005271562.3:c.8565_8566delinsAA (ATM) XP_005271619.2:p.Ser2855_Val2856delinsArgIle
XM_005271562.5:c.8565_8566delinsAA (ATM) XP_005271619.2:p.Ser2855_Val2856delinsArgIle
XM_006718843.2:c.8565_8566delinsAA (ATM) XP_006718906.1:p.Ser2855_Val2856delinsArgIle
XM_006718843.4:c.8565_8566delinsAA (ATM) XP_006718906.1:p.Ser2855_Val2856delinsArgIle
XM_006718845.1:c.4521_4522delinsAA (ATM) XP_006718908.1:p.Ser1507_Val1508delinsArgIle
XM_006718845.2:c.4521_4522delinsAA (ATM) XP_006718908.1:p.Ser1507_Val1508delinsArgIle
XM_011542640.1:c.788-5526_788-5525delinsTT (C11orf65) XP_011540942.1:n.788-5526_788-5525delinsTT
XM_011542640.2:c.788-5526_788-5525delinsTT (C11orf65) XP_011540942.1:n.788-5526_788-5525delinsTT
XM_011542643.1:c.732-5526_732-5525delinsTT (C11orf65) XP_011540945.1:n.732-5526_732-5525delinsTT
XM_011542643.2:c.732-5526_732-5525delinsTT (C11orf65) XP_011540945.1:n.732-5526_732-5525delinsTT
XM_011542840.1:c.8565_8566delinsAA (ATM) XP_011541142.1:p.Ser2855_Val2856delinsArgIle
XM_011542840.3:c.8565_8566delinsAA (ATM) XP_011541142.1:p.Ser2855_Val2856delinsArgIle
XM_011542841.1:c.8565_8566delinsAA (ATM) XP_011541143.1:p.Ser2855_Val2856delinsArgIle
XM_011542842.1:c.8400_8401delinsAA (ATM) XP_011541144.1:p.Ser2800_Val2801delinsArgIle
XM_011542842.3:c.8400_8401delinsAA (ATM) XP_011541144.1:p.Ser2800_Val2801delinsArgIle
XM_011542843.1:c.8565_8566delinsAA (ATM) XP_011541145.1:p.Ser2855_Val2856delinsArgIle
XM_011542843.2:c.8565_8566delinsAA (ATM) XP_011541145.1:p.Ser2855_Val2856delinsArgIle
XM_011542844.1:c.7521_7522delinsAA (ATM) XP_011541146.1:p.Ser2507_Val2508delinsArgIle
XM_011542844.3:c.7521_7522delinsAA (ATM) XP_011541146.1:p.Ser2507_Val2508delinsArgIle
XM_011542845.1:c.7257_7258delinsAA (ATM) XP_011541147.1:p.Ser2419_Val2420delinsArgIle
XM_011542845.2:c.7257_7258delinsAA (ATM) XP_011541147.1:p.Ser2419_Val2420delinsArgIle
XM_011542847.1:c.3636_3637delinsAA (ATM) XP_011541149.1:p.Ser1212_Val1213delinsArgIle
XM_017017247.1:c.904-5526_904-5525delinsTT (C11orf65) XP_016872736.1:n.904-5526_904-5525delinsTT
XM_017017789.2:c.8565_8566delinsAA (ATM) XP_016873278.1:p.Ser2855_Val2856delinsArgIle
XM_017017790.2:c.8565_8566delinsAA (ATM) XP_016873279.1:p.Ser2855_Val2856delinsArgIle
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