Canonical Allele Identifier: CA601699231

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354800_108354803dup , CM000673.2:g.108354800_108354803dup	GRCh38
NC_000011.9:g.108225527_108225530dup , CM000673.1:g.108225527_108225530dup	GRCh37
NC_000011.8:g.107730737_107730740dup	NCBI36
NG_009830.1:g.136969_136972dup , LRG_135:g.136969_136972dup
NG_054724.1:g.120032_120035dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.8787-11_8787-8dup (ATM) MANE Select	NP_000042.3:n.8787-11_8787-8dup
ENST00000675843.1:c.8787-11_8787-8dup (ATM) MANE Select	ENSP00000501606.1:n.8787-11_8787-8dup
NM_000051.3:c.8787-11_8787-8dup , LRG_135t1:c.8787-11_8787-8dup (ATM)	NP_000042.3:n.8787-11_8787-8dup
NM_001330368.1:c.640+31119_640+31122dup (C11orf65)	NP_001317297.1:n.640+31119_640+31122dup
NM_001330368.2:c.640+31119_640+31122dup (C11orf65)	NP_001317297.1:n.640+31119_640+31122dup
NM_001351110.1:c.695-19509_695-19506dup (C11orf65)	NP_001338039.1:n.695-19509_695-19506dup
NM_001351110.2:c.695-19509_695-19506dup (C11orf65)	NP_001338039.1:n.695-19509_695-19506dup
NM_001351834.1:c.8787-11_8787-8dup (ATM)	NP_001338763.1:n.8787-11_8787-8dup
NM_001351834.2:c.8787-11_8787-8dup (ATM)	NP_001338763.1:n.8787-11_8787-8dup
NR_147053.2:n.2301+114_2301+117dup (C11orf65)
NR_147053.3:n.2299+114_2299+117dup (C11orf65)
ENST00000278616.8:c.8787-11_8787-8dup (ATM)	ENSP00000278616.4:n.8787-11_8787-8dup
ENST00000278616.9:c.8787-11_8787-8dup (ATM)	ENSP00000278616.4:n.8787-11_8787-8dup
ENST00000452508.6:c.8787-11_8787-8dup (ATM)	ENSP00000388058.2:n.8787-11_8787-8dup
ENST00000452508.7:c.8787-11_8787-8dup (ATM)	ENSP00000388058.2:n.8787-11_8787-8dup
ENST00000524755.5:c.227-19509_227-19506dup (C11orf65)
ENST00000524792.5:n.5002-11_5002-8dup (ATM)
ENST00000525178.5:n.275-11_275-8dup (ATM)
ENST00000525729.5:c.640+31119_640+31122dup (C11orf65)	ENSP00000433395.1:n.640+31119_640+31122dup
ENST00000526725.1:n.272-14437_272-14434dup (C11orf65)
ENST00000527181.1:n.126-11_126-8dup (ATM)
ENST00000527531.5:c.*1196+114_*1196+117dup (C11orf65)	ENSP00000431706.1:n.*1196+114_*1196+117dup
ENST00000527805.6:c.*3851-11_*3851-8dup (ATM)	ENSP00000435747.2:n.*3851-11_*3851-8dup
ENST00000615746.4:c.*1196+114_*1196+117dup (C11orf65)	ENSP00000483537.1:n.*1196+114_*1196+117dup
ENST00000638786.2:n.1485-11_1485-8dup (ATM)
ENST00000675595.1:c.*3922-11_*3922-8dup (ATM)	ENSP00000502563.1:n.*3922-11_*3922-8dup
ENST00000682286.1:n.3544-11_3544-8dup (ATM)
ENST00000682302.1:n.3205-11_3205-8dup (ATM)
ENST00000683174.1:n.10271-11_10271-8dup (ATM)
ENST00000683524.1:n.4011-11_4011-8dup (ATM)
ENST00000684152.1:n.4203-11_4203-8dup (ATM)
ENST00000684180.1:n.1261-11_1261-8dup (ATM)
ENST00000684447.1:n.5280-11_5280-8dup (ATM)
ENST00000713593.1:c.*8258-11_*8258-8dup (ATM)	ENSP00000518889.1:n.*8258-11_*8258-8dup
XM_005271414.3:c.788-19509_788-19506dup (C11orf65)	XP_005271471.1:n.788-19509_788-19506dup
XM_005271414.4:c.788-19509_788-19506dup (C11orf65)	XP_005271471.1:n.788-19509_788-19506dup
XM_005271415.3:c.732-19509_732-19506dup (C11orf65)	XP_005271472.1:n.732-19509_732-19506dup
XM_005271415.4:c.732-19509_732-19506dup (C11orf65)	XP_005271472.1:n.732-19509_732-19506dup
XM_005271561.3:c.8787-11_8787-8dup (ATM)	XP_005271618.2:n.8787-11_8787-8dup
XM_005271562.3:c.8787-11_8787-8dup (ATM)	XP_005271619.2:n.8787-11_8787-8dup
XM_005271562.5:c.8787-11_8787-8dup (ATM)	XP_005271619.2:n.8787-11_8787-8dup
XM_006718843.2:c.8787-11_8787-8dup (ATM)	XP_006718906.1:n.8787-11_8787-8dup
XM_006718843.4:c.8787-11_8787-8dup (ATM)	XP_006718906.1:n.8787-11_8787-8dup
XM_006718845.1:c.4743-11_4743-8dup (ATM)	XP_006718908.1:n.4743-11_4743-8dup
XM_006718845.2:c.4743-11_4743-8dup (ATM)	XP_006718908.1:n.4743-11_4743-8dup
XM_011542640.1:c.788-14437_788-14434dup (C11orf65)	XP_011540942.1:n.788-14437_788-14434dup
XM_011542640.2:c.788-14437_788-14434dup (C11orf65)	XP_011540942.1:n.788-14437_788-14434dup
XM_011542642.1:c.732-5728_732-5725dup (C11orf65)	XP_011540944.1:n.732-5728_732-5725dup
XM_011542643.1:c.732-14437_732-14434dup (C11orf65)	XP_011540945.1:n.732-14437_732-14434dup
XM_011542643.2:c.732-14437_732-14434dup (C11orf65)	XP_011540945.1:n.732-14437_732-14434dup
XM_011542840.1:c.8787-11_8787-8dup (ATM)	XP_011541142.1:n.8787-11_8787-8dup
XM_011542840.3:c.8787-11_8787-8dup (ATM)	XP_011541142.1:n.8787-11_8787-8dup
XM_011542841.1:c.8787-11_8787-8dup (ATM)	XP_011541143.1:n.8787-11_8787-8dup
XM_011542842.1:c.8622-11_8622-8dup (ATM)	XP_011541144.1:n.8622-11_8622-8dup
XM_011542842.3:c.8622-11_8622-8dup (ATM)	XP_011541144.1:n.8622-11_8622-8dup
XM_011542844.1:c.7743-11_7743-8dup (ATM)	XP_011541146.1:n.7743-11_7743-8dup
XM_011542844.3:c.7743-11_7743-8dup (ATM)	XP_011541146.1:n.7743-11_7743-8dup
XM_011542845.1:c.7479-11_7479-8dup (ATM)	XP_011541147.1:n.7479-11_7479-8dup
XM_011542845.2:c.7479-11_7479-8dup (ATM)	XP_011541147.1:n.7479-11_7479-8dup
XM_011542847.1:c.3858-11_3858-8dup (ATM)	XP_011541149.1:n.3858-11_3858-8dup
XM_017017247.1:c.904-14437_904-14434dup (C11orf65)	XP_016872736.1:n.904-14437_904-14434dup
XM_017017789.2:c.8787-11_8787-8dup (ATM)	XP_016873278.1:n.8787-11_8787-8dup
XM_017017790.2:c.8787-11_8787-8dup (ATM)	XP_016873279.1:n.8787-11_8787-8dup