Canonical Allele Identifier: CA2573146756

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1503916
• ClinVar RCV Id: RCV002025806
• dbSNP Id: rs2136952226

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343350_108343351delinsAA , CM000673.2:g.108343350_108343351delinsAA	GRCh38
NC_000011.9:g.108214077_108214078delinsAA , CM000673.1:g.108214077_108214078delinsAA	GRCh37
NC_000011.8:g.107719287_107719288delinsAA	NCBI36
NG_009830.1:g.125519_125520delinsAA , LRG_135:g.125519_125520delinsAA
NG_054724.1:g.131482_131483delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8397_8398delinsAA (ATM)	ENSP00000388058.2:p.Phe2799_Gln2800delinsLeuLys
ENST00000713593.1:c.*7868_*7869delinsAA (ATM)	ENSP00000518889.1:n.*7868_*7869delinsAA
ENST00000278616.9:c.8397_8398delinsAA (ATM)	ENSP00000278616.4:p.Phe2799_Gln2800delinsLeuLys
ENST00000638786.2:n.1095_1096delinsAA (ATM)
ENST00000682286.1:n.3154_3155delinsAA (ATM)
ENST00000682302.1:n.2815_2816delinsAA (ATM)
ENST00000683174.1:n.9881_9882delinsAA (ATM)
ENST00000683524.1:n.3621_3622delinsAA (ATM)
ENST00000684152.1:n.3813_3814delinsAA (ATM)
ENST00000684180.1:n.871_872delinsAA (ATM)
ENST00000684447.1:n.4890_4891delinsAA (ATM)
ENST00000527805.6:c.*3461_*3462delinsAA (ATM)	ENSP00000435747.2:n.*3461_*3462delinsAA
ENST00000675595.1:c.*3532_*3533delinsAA (ATM)	ENSP00000502563.1:n.*3532_*3533delinsAA
ENST00000675843.1:c.8397_8398delinsAA (ATM) MANE Select	ENSP00000501606.1:p.Phe2799_Gln2800delinsLeuLys
ENST00000278616.8:c.8397_8398delinsAA (ATM)	ENSP00000278616.4:p.Phe2799_Gln2800delinsLeuLys
ENST00000452508.6:c.8397_8398delinsAA (ATM)	ENSP00000388058.2:p.Phe2799_Gln2800delinsLeuLys
ENST00000524755.5:c.227-8059_227-8058delinsTT (C11orf65)
ENST00000524792.5:n.4612_4613delinsAA (ATM)
ENST00000525729.5:c.641-34280_641-34279delinsTT (C11orf65)	ENSP00000433395.1:n.641-34280_641-34279delinsTT
ENST00000526725.1:n.272-2987_272-2986delinsTT (C11orf65)
ENST00000527531.5:c.*1197-8059_*1197-8058delinsTT (C11orf65)	ENSP00000431706.1:n.*1197-8059_*1197-8058delinsTT
ENST00000615746.4:c.*1197-8059_*1197-8058delinsTT (C11orf65)	ENSP00000483537.1:n.*1197-8059_*1197-8058delinsTT
NM_000051.3:c.8397_8398delinsAA , LRG_135t1:c.8397_8398delinsAA (ATM)	NP_000042.3:p.Phe2799_Gln2800delinsLeuLys
XM_005271414.3:c.788-8059_788-8058delinsTT (C11orf65)	XP_005271471.1:n.788-8059_788-8058delinsTT
XM_005271415.3:c.732-8059_732-8058delinsTT (C11orf65)	XP_005271472.1:n.732-8059_732-8058delinsTT
XM_005271561.3:c.8397_8398delinsAA (ATM)	XP_005271618.2:p.Phe2799_Gln2800delinsLeuLys
XM_005271562.3:c.8397_8398delinsAA (ATM)	XP_005271619.2:p.Phe2799_Gln2800delinsLeuLys
XM_006718843.2:c.8397_8398delinsAA (ATM)	XP_006718906.1:p.Phe2799_Gln2800delinsLeuLys
XM_006718845.1:c.4353_4354delinsAA (ATM)	XP_006718908.1:p.Phe1451_Gln1452delinsLeuLys
XM_011542640.1:c.788-2987_788-2986delinsTT (C11orf65)	XP_011540942.1:n.788-2987_788-2986delinsTT
XM_011542643.1:c.732-2987_732-2986delinsTT (C11orf65)	XP_011540945.1:n.732-2987_732-2986delinsTT
XM_011542840.1:c.8397_8398delinsAA (ATM)	XP_011541142.1:p.Phe2799_Gln2800delinsLeuLys
XM_011542841.1:c.8397_8398delinsAA (ATM)	XP_011541143.1:p.Phe2799_Gln2800delinsLeuLys
XM_011542842.1:c.8232_8233delinsAA (ATM)	XP_011541144.1:p.Phe2744_Gln2745delinsLeuLys
XM_011542843.1:c.8397_8398delinsAA (ATM)	XP_011541145.1:p.Phe2799_Gln2800delinsLeuLys
XM_011542844.1:c.7353_7354delinsAA (ATM)	XP_011541146.1:p.Phe2451_Gln2452delinsLeuLys
XM_011542845.1:c.7089_7090delinsAA (ATM)	XP_011541147.1:p.Phe2363_Gln2364delinsLeuLys
XM_011542847.1:c.3468_3469delinsAA (ATM)	XP_011541149.1:p.Phe1156_Gln1157delinsLeuLys
NM_001330368.1:c.641-34280_641-34279delinsTT (C11orf65)	NP_001317297.1:n.641-34280_641-34279delinsTT
NM_001351110.1:c.695-8059_695-8058delinsTT (C11orf65)	NP_001338039.1:n.695-8059_695-8058delinsTT
NM_001351834.1:c.8397_8398delinsAA (ATM)	NP_001338763.1:p.Phe2799_Gln2800delinsLeuLys
NR_147053.2:n.2302-8059_2302-8058delinsTT (C11orf65)
XM_005271414.4:c.788-8059_788-8058delinsTT (C11orf65)	XP_005271471.1:n.788-8059_788-8058delinsTT
XM_005271415.4:c.732-8059_732-8058delinsTT (C11orf65)	XP_005271472.1:n.732-8059_732-8058delinsTT
XM_005271562.5:c.8397_8398delinsAA (ATM)	XP_005271619.2:p.Phe2799_Gln2800delinsLeuLys
XM_006718843.4:c.8397_8398delinsAA (ATM)	XP_006718906.1:p.Phe2799_Gln2800delinsLeuLys
XM_006718845.2:c.4353_4354delinsAA (ATM)	XP_006718908.1:p.Phe1451_Gln1452delinsLeuLys
XM_011542640.2:c.788-2987_788-2986delinsTT (C11orf65)	XP_011540942.1:n.788-2987_788-2986delinsTT
XM_011542643.2:c.732-2987_732-2986delinsTT (C11orf65)	XP_011540945.1:n.732-2987_732-2986delinsTT
XM_011542840.3:c.8397_8398delinsAA (ATM)	XP_011541142.1:p.Phe2799_Gln2800delinsLeuLys
XM_011542842.3:c.8232_8233delinsAA (ATM)	XP_011541144.1:p.Phe2744_Gln2745delinsLeuLys
XM_011542843.2:c.8397_8398delinsAA (ATM)	XP_011541145.1:p.Phe2799_Gln2800delinsLeuLys
XM_011542844.3:c.7353_7354delinsAA (ATM)	XP_011541146.1:p.Phe2451_Gln2452delinsLeuLys
XM_011542845.2:c.7089_7090delinsAA (ATM)	XP_011541147.1:p.Phe2363_Gln2364delinsLeuLys
XM_017017247.1:c.904-2987_904-2986delinsTT (C11orf65)	XP_016872736.1:n.904-2987_904-2986delinsTT
XM_017017789.2:c.8397_8398delinsAA (ATM)	XP_016873278.1:p.Phe2799_Gln2800delinsLeuLys
XM_017017790.2:c.8397_8398delinsAA (ATM)	XP_016873279.1:p.Phe2799_Gln2800delinsLeuLys
NM_001330368.2:c.641-34280_641-34279delinsTT (C11orf65)	NP_001317297.1:n.641-34280_641-34279delinsTT
NM_001351110.2:c.695-8059_695-8058delinsTT (C11orf65)	NP_001338039.1:n.695-8059_695-8058delinsTT
NM_001351834.2:c.8397_8398delinsAA (ATM)	NP_001338763.1:p.Phe2799_Gln2800delinsLeuLys
NM_000051.4:c.8397_8398delinsAA (ATM) MANE Select	NP_000042.3:p.Phe2799_Gln2800delinsLeuLys
NR_147053.3:n.2300-8059_2300-8058delinsTT (C11orf65)