Canonical Allele Identifier: CA915947667

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 826547
• ClinVar RCV Id: RCV001025520 ; RCV001243705 ; RCV003315445
• dbSNP Id: rs1591129041

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325409_108325417delinsCTC , CM000673.2:g.108325409_108325417delinsCTC	GRCh38
NC_000011.9:g.108196136_108196144delinsCTC , CM000673.1:g.108196136_108196144delinsCTC	GRCh37
NC_000011.8:g.107701346_107701354delinsCTC	NCBI36
NG_009830.1:g.107578_107586delinsCTC , LRG_135:g.107578_107586delinsCTC
NG_054724.1:g.149416_149424delinsGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6672_6680delinsCTC (ATM)	ENSP00000388058.2:p.Met2224_Arg2227delinsIleSer
ENST00000713593.1:c.*6143_*6151delinsCTC (ATM)	ENSP00000518889.1:n.*6143_*6151delinsCTC
ENST00000278616.9:c.6672_6680delinsCTC (ATM)	ENSP00000278616.4:p.Met2224_Arg2227delinsIleSer
ENST00000525056.2:n.1091_1099delinsCTC (ATM)
ENST00000682286.1:n.1429_1437delinsCTC (ATM)
ENST00000682302.1:n.1090_1098delinsCTC (ATM)
ENST00000683174.1:n.8156_8164delinsCTC (ATM)
ENST00000683524.1:n.1896_1904delinsCTC (ATM)
ENST00000684152.1:n.2386_2394delinsCTC (ATM)
ENST00000527805.6:c.*1736_*1744delinsCTC (ATM)	ENSP00000435747.2:n.*1736_*1744delinsCTC
ENST00000675595.1:c.*1807_*1815delinsCTC (ATM)	ENSP00000502563.1:n.*1807_*1815delinsCTC
ENST00000675843.1:c.6672_6680delinsCTC (ATM) MANE Select	ENSP00000501606.1:p.Met2224_Arg2227delinsIleSer
ENST00000278616.8:c.6672_6680delinsCTC (ATM)	ENSP00000278616.4:p.Met2224_Arg2227delinsIleSer
ENST00000452508.6:c.6672_6680delinsCTC (ATM)	ENSP00000388058.2:p.Met2224_Arg2227delinsIleSer
ENST00000524792.5:n.2887_2895delinsCTC (ATM)
ENST00000525729.5:c.641-16346_641-16338delinsGAG (C11orf65)	ENSP00000433395.1:n.641-16346_641-16338delinsGAG
ENST00000533690.5:n.2076_2084delinsCTC (ATM)
NM_000051.3:c.6672_6680delinsCTC , LRG_135t1:c.6672_6680delinsCTC (ATM)	NP_000042.3:p.Met2224_Arg2227delinsIleSer
XM_005271561.3:c.6672_6680delinsCTC (ATM)	XP_005271618.2:p.Met2224_Arg2227delinsIleSer
XM_005271562.3:c.6672_6680delinsCTC (ATM)	XP_005271619.2:p.Met2224_Arg2227delinsIleSer
XM_006718843.2:c.6672_6680delinsCTC (ATM)	XP_006718906.1:p.Met2224_Arg2227delinsIleSer
XM_006718845.1:c.2628_2636delinsCTC (ATM)	XP_006718908.1:p.Met876_Arg879delinsIleSer
XM_011542840.1:c.6672_6680delinsCTC (ATM)	XP_011541142.1:p.Met2224_Arg2227delinsIleSer
XM_011542841.1:c.6672_6680delinsCTC (ATM)	XP_011541143.1:p.Met2224_Arg2227delinsIleSer
XM_011542842.1:c.6507_6515delinsCTC (ATM)	XP_011541144.1:p.Met2169_Arg2172delinsIleSer
XM_011542843.1:c.6672_6680delinsCTC (ATM)	XP_011541145.1:p.Met2224_Arg2227delinsIleSer
XM_011542844.1:c.5628_5636delinsCTC (ATM)	XP_011541146.1:p.Met1876_Arg1879delinsIleSer
XM_011542845.1:c.5364_5372delinsCTC (ATM)	XP_011541147.1:p.Met1788_Arg1791delinsIleSer
XM_011542847.1:c.1743_1751delinsCTC (ATM)	XP_011541149.1:p.Met581_Arg584delinsIleSer
NM_001330368.1:c.641-16346_641-16338delinsGAG (C11orf65)	NP_001317297.1:n.641-16346_641-16338delinsGAG
NM_001351110.1:c.*38+9803_*38+9811delinsGAG (C11orf65)	NP_001338039.1:n.*38+9803_*38+9811delinsGAG
NM_001351834.1:c.6672_6680delinsCTC (ATM)	NP_001338763.1:p.Met2224_Arg2227delinsIleSer
XM_005271562.5:c.6672_6680delinsCTC (ATM)	XP_005271619.2:p.Met2224_Arg2227delinsIleSer
XM_006718843.4:c.6672_6680delinsCTC (ATM)	XP_006718906.1:p.Met2224_Arg2227delinsIleSer
XM_006718845.2:c.2628_2636delinsCTC (ATM)	XP_006718908.1:p.Met876_Arg879delinsIleSer
XM_011542840.3:c.6672_6680delinsCTC (ATM)	XP_011541142.1:p.Met2224_Arg2227delinsIleSer
XM_011542842.3:c.6507_6515delinsCTC (ATM)	XP_011541144.1:p.Met2169_Arg2172delinsIleSer
XM_011542843.2:c.6672_6680delinsCTC (ATM)	XP_011541145.1:p.Met2224_Arg2227delinsIleSer
XM_011542844.3:c.5628_5636delinsCTC (ATM)	XP_011541146.1:p.Met1876_Arg1879delinsIleSer
XM_011542845.2:c.5364_5372delinsCTC (ATM)	XP_011541147.1:p.Met1788_Arg1791delinsIleSer
XM_017017789.2:c.6672_6680delinsCTC (ATM)	XP_016873278.1:p.Met2224_Arg2227delinsIleSer
XM_017017790.2:c.6672_6680delinsCTC (ATM)	XP_016873279.1:p.Met2224_Arg2227delinsIleSer
NM_001330368.2:c.641-16346_641-16338delinsGAG (C11orf65)	NP_001317297.1:n.641-16346_641-16338delinsGAG
NM_001351110.2:c.*38+9803_*38+9811delinsGAG (C11orf65)	NP_001338039.1:n.*38+9803_*38+9811delinsGAG
NM_001351834.2:c.6672_6680delinsCTC (ATM)	NP_001338763.1:p.Met2224_Arg2227delinsIleSer
NM_000051.4:c.6672_6680delinsCTC (ATM) MANE Select	NP_000042.3:p.Met2224_Arg2227delinsIleSer