Canonical Allele Identifier: CA891842647

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 566224
• ClinVar RCV Id: RCV000685981
• dbSNP Id: rs1565498913

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108315866_108315873delinsTA , CM000673.2:g.108315866_108315873delinsTA	GRCh38
NC_000011.9:g.108186593_108186600delinsTA , CM000673.1:g.108186593_108186600delinsTA	GRCh37
NC_000011.8:g.107691803_107691810delinsTA	NCBI36
NG_009830.1:g.98035_98042delinsTA , LRG_135:g.98035_98042delinsTA
NG_054724.1:g.158960_158967delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6050_6057delinsTA (ATM)	ENSP00000388058.2:p.Ser2017_Tyr2019delinsIle
ENST00000713593.1:c.*5521_*5528delinsTA (ATM)	ENSP00000518889.1:n.*5521_*5528delinsTA
ENST00000278616.9:c.6050_6057delinsTA (ATM)	ENSP00000278616.4:p.Ser2017_Tyr2019delinsIle
ENST00000525056.2:n.469_476delinsTA (ATM)
ENST00000682286.1:n.807_814delinsTA (ATM)
ENST00000682302.1:n.468_475delinsTA (ATM)
ENST00000683174.1:n.7534_7541delinsTA (ATM)
ENST00000683524.1:n.1274_1281delinsTA (ATM)
ENST00000684152.1:n.1764_1771delinsTA (ATM)
ENST00000527805.6:c.*1114_*1121delinsTA (ATM)	ENSP00000435747.2:n.*1114_*1121delinsTA
ENST00000675595.1:c.*1114_*1121delinsTA (ATM)	ENSP00000502563.1:n.*1114_*1121delinsTA
ENST00000675843.1:c.6050_6057delinsTA (ATM) MANE Select	ENSP00000501606.1:p.Ser2017_Tyr2019delinsIle
ENST00000278616.8:c.6050_6057delinsTA (ATM)	ENSP00000278616.4:p.Ser2017_Tyr2019delinsIle
ENST00000452508.6:c.6050_6057delinsTA (ATM)	ENSP00000388058.2:p.Ser2017_Tyr2019delinsIle
ENST00000524792.5:n.2265_2272delinsTA (ATM)
ENST00000525729.5:c.641-6802_641-6795delinsTA (C11orf65)	ENSP00000433395.1:n.641-6802_641-6795delinsTA
ENST00000529588.5:c.474_481delinsTA (ATM)
ENST00000532765.1:n.367_374delinsTA (ATM)
ENST00000533690.5:n.1454_1461delinsTA (ATM)
NM_000051.3:c.6050_6057delinsTA , LRG_135t1:c.6050_6057delinsTA (ATM)	NP_000042.3:p.Ser2017_Tyr2019delinsIle
XM_005271561.3:c.6050_6057delinsTA (ATM)	XP_005271618.2:p.Ser2017_Tyr2019delinsIle
XM_005271562.3:c.6050_6057delinsTA (ATM)	XP_005271619.2:p.Ser2017_Tyr2019delinsIle
XM_006718843.2:c.6050_6057delinsTA (ATM)	XP_006718906.1:p.Ser2017_Tyr2019delinsIle
XM_006718845.1:c.2006_2013delinsTA (ATM)	XP_006718908.1:p.Ser669_Tyr671delinsIle
XM_011542840.1:c.6050_6057delinsTA (ATM)	XP_011541142.1:p.Ser2017_Tyr2019delinsIle
XM_011542841.1:c.6050_6057delinsTA (ATM)	XP_011541143.1:p.Ser2017_Tyr2019delinsIle
XM_011542842.1:c.5885_5892delinsTA (ATM)	XP_011541144.1:p.Ser1962_Tyr1964delinsIle
XM_011542843.1:c.6050_6057delinsTA (ATM)	XP_011541145.1:p.Ser2017_Tyr2019delinsIle
XM_011542844.1:c.5006_5013delinsTA (ATM)	XP_011541146.1:p.Ser1669_Tyr1671delinsIle
XM_011542845.1:c.4742_4749delinsTA (ATM)	XP_011541147.1:p.Ser1581_Tyr1583delinsIle
XM_011542847.1:c.1121_1128delinsTA (ATM)	XP_011541149.1:p.Ser374_Tyr376delinsIle
NM_001330368.1:c.641-6802_641-6795delinsTA (C11orf65)	NP_001317297.1:n.641-6802_641-6795delinsTA
NM_001351110.1:c.*39-6802_*39-6795delinsTA (C11orf65)	NP_001338039.1:n.*39-6802_*39-6795delinsTA
NM_001351834.1:c.6050_6057delinsTA (ATM)	NP_001338763.1:p.Ser2017_Tyr2019delinsIle
XM_005271562.5:c.6050_6057delinsTA (ATM)	XP_005271619.2:p.Ser2017_Tyr2019delinsIle
XM_006718843.4:c.6050_6057delinsTA (ATM)	XP_006718906.1:p.Ser2017_Tyr2019delinsIle
XM_006718845.2:c.2006_2013delinsTA (ATM)	XP_006718908.1:p.Ser669_Tyr671delinsIle
XM_011542840.3:c.6050_6057delinsTA (ATM)	XP_011541142.1:p.Ser2017_Tyr2019delinsIle
XM_011542842.3:c.5885_5892delinsTA (ATM)	XP_011541144.1:p.Ser1962_Tyr1964delinsIle
XM_011542843.2:c.6050_6057delinsTA (ATM)	XP_011541145.1:p.Ser2017_Tyr2019delinsIle
XM_011542844.3:c.5006_5013delinsTA (ATM)	XP_011541146.1:p.Ser1669_Tyr1671delinsIle
XM_011542845.2:c.4742_4749delinsTA (ATM)	XP_011541147.1:p.Ser1581_Tyr1583delinsIle
XM_017017789.2:c.6050_6057delinsTA (ATM)	XP_016873278.1:p.Ser2017_Tyr2019delinsIle
XM_017017790.2:c.6050_6057delinsTA (ATM)	XP_016873279.1:p.Ser2017_Tyr2019delinsIle
XM_017017791.1:c.6050_6057delinsTA (ATM)	XP_016873280.1:p.Ser2017_Tyr2019delinsIle
NM_001330368.2:c.641-6802_641-6795delinsTA (C11orf65)	NP_001317297.1:n.641-6802_641-6795delinsTA
NM_001351110.2:c.*39-6802_*39-6795delinsTA (C11orf65)	NP_001338039.1:n.*39-6802_*39-6795delinsTA
NM_001351834.2:c.6050_6057delinsTA (ATM)	NP_001338763.1:p.Ser2017_Tyr2019delinsIle
NM_000051.4:c.6050_6057delinsTA (ATM) MANE Select	NP_000042.3:p.Ser2017_Tyr2019delinsIle