Canonical Allele Identifier: CA1998801267

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316077_108316080delinsAATC , CM000673.2:g.108316077_108316080delinsAATC	GRCh38
NC_000011.9:g.108186804_108186807delinsAATC , CM000673.1:g.108186804_108186807delinsAATC	GRCh37
NC_000011.8:g.107692014_107692017delinsAATC	NCBI36
NG_009830.1:g.98246_98249delinsAATC , LRG_135:g.98246_98249delinsAATC
NG_054724.1:g.158753_158756delinsGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6162_6165delinsAATC (ATM)	ENSP00000388058.2:p.Ala2054=
ENST00000713593.1:c.*5633_*5636delinsAATC (ATM)	ENSP00000518889.1:n.*5633_*5636delinsAATC
ENST00000278616.9:c.6162_6165delinsAATC (ATM)	ENSP00000278616.4:p.Ala2054=
ENST00000525056.2:n.581_584delinsAATC (ATM)
ENST00000682286.1:n.919_922delinsAATC (ATM)
ENST00000682302.1:n.580_583delinsAATC (ATM)
ENST00000683174.1:n.7646_7649delinsAATC (ATM)
ENST00000683524.1:n.1386_1389delinsAATC (ATM)
ENST00000684152.1:n.1876_1879delinsAATC (ATM)
ENST00000527805.6:c.*1226_*1229delinsAATC (ATM)	ENSP00000435747.2:n.*1226_*1229delinsAATC
ENST00000675595.1:c.*1226_*1229delinsAATC (ATM)	ENSP00000502563.1:n.*1226_*1229delinsAATC
ENST00000675843.1:c.6162_6165delinsAATC (ATM) MANE Select	ENSP00000501606.1:p.Ala2054=
ENST00000278616.8:c.6162_6165delinsAATC (ATM)	ENSP00000278616.4:p.Ala2054=
ENST00000452508.6:c.6162_6165delinsAATC (ATM)	ENSP00000388058.2:p.Ala2054=
ENST00000524792.5:n.2377_2380delinsAATC (ATM)
ENST00000525729.5:c.641-7009_641-7006delinsGATT (C11orf65)	ENSP00000433395.1:n.641-7009_641-7006delinsGATT
ENST00000532765.1:n.479_482delinsAATC (ATM)
ENST00000533690.5:n.1566_1569delinsAATC (ATM)
NM_000051.3:c.6162_6165delinsAATC , LRG_135t1:c.6162_6165delinsAATC (ATM)	NP_000042.3:p.Ala2054=
XM_005271561.3:c.6162_6165delinsAATC (ATM)	XP_005271618.2:p.Ala2054=
XM_005271562.3:c.6162_6165delinsAATC (ATM)	XP_005271619.2:p.Ala2054=
XM_006718843.2:c.6162_6165delinsAATC (ATM)	XP_006718906.1:p.Ala2054=
XM_006718845.1:c.2118_2121delinsAATC (ATM)	XP_006718908.1:p.Ala706=
XM_011542840.1:c.6162_6165delinsAATC (ATM)	XP_011541142.1:p.Ala2054=
XM_011542841.1:c.6162_6165delinsAATC (ATM)	XP_011541143.1:p.Ala2054=
XM_011542842.1:c.5997_6000delinsAATC (ATM)	XP_011541144.1:p.Ala1999=
XM_011542843.1:c.6162_6165delinsAATC (ATM)	XP_011541145.1:p.Ala2054=
XM_011542844.1:c.5118_5121delinsAATC (ATM)	XP_011541146.1:p.Ala1706=
XM_011542845.1:c.4854_4857delinsAATC (ATM)	XP_011541147.1:p.Ala1618=
XM_011542847.1:c.1233_1236delinsAATC (ATM)	XP_011541149.1:p.Ala411=
NM_001330368.1:c.641-7009_641-7006delinsGATT (C11orf65)	NP_001317297.1:n.641-7009_641-7006delinsGATT
NM_001351110.1:c.*39-7009_*39-7006delinsGATT (C11orf65)	NP_001338039.1:n.*39-7009_*39-7006delinsGATT
NM_001351834.1:c.6162_6165delinsAATC (ATM)	NP_001338763.1:p.Ala2054=
XM_005271562.5:c.6162_6165delinsAATC (ATM)	XP_005271619.2:p.Ala2054=
XM_006718843.4:c.6162_6165delinsAATC (ATM)	XP_006718906.1:p.Ala2054=
XM_006718845.2:c.2118_2121delinsAATC (ATM)	XP_006718908.1:p.Ala706=
XM_011542840.3:c.6162_6165delinsAATC (ATM)	XP_011541142.1:p.Ala2054=
XM_011542842.3:c.5997_6000delinsAATC (ATM)	XP_011541144.1:p.Ala1999=
XM_011542843.2:c.6162_6165delinsAATC (ATM)	XP_011541145.1:p.Ala2054=
XM_011542844.3:c.5118_5121delinsAATC (ATM)	XP_011541146.1:p.Ala1706=
XM_011542845.2:c.4854_4857delinsAATC (ATM)	XP_011541147.1:p.Ala1618=
XM_017017789.2:c.6162_6165delinsAATC (ATM)	XP_016873278.1:p.Ala2054=
XM_017017790.2:c.6162_6165delinsAATC (ATM)	XP_016873279.1:p.Ala2054=
XM_017017791.1:c.6162_6165delinsAATC (ATM)	XP_016873280.1:p.Ala2054=
NM_001330368.2:c.641-7009_641-7006delinsGATT (C11orf65)	NP_001317297.1:n.641-7009_641-7006delinsGATT
NM_001351110.2:c.*39-7009_*39-7006delinsGATT (C11orf65)	NP_001338039.1:n.*39-7009_*39-7006delinsGATT
NM_001351834.2:c.6162_6165delinsAATC (ATM)	NP_001338763.1:p.Ala2054=
NM_000051.4:c.6162_6165delinsAATC (ATM) MANE Select	NP_000042.3:p.Ala2054=