Canonical Allele Identifier: CA228373729

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs762590035
• MyVariant Identifiers: chr11:g.108224794_108224795insAACA (hg19) ; chr11:g.108354067_108354068insAACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354067_108354068insAACA , CM000673.2:g.108354067_108354068insAACA	GRCh38
NC_000011.9:g.108224794_108224795insAACA , CM000673.1:g.108224794_108224795insAACA	GRCh37
NC_000011.8:g.107730004_107730005insAACA	NCBI36
NG_009830.1:g.136236_136237insAACA , LRG_135:g.136236_136237insAACA
NG_054724.1:g.120768_120769insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+187_8786+188insAACA (ATM)	ENSP00000388058.2:n.8786+187_8786+188insAACA
ENST00000713593.1:c.*8257+187_*8257+188insAACA (ATM)	ENSP00000518889.1:n.*8257+187_*8257+188insAACA
ENST00000278616.9:c.8786+187_8786+188insAACA (ATM)	ENSP00000278616.4:n.8786+187_8786+188insAACA
ENST00000638786.2:n.1484+187_1484+188insAACA (ATM)
ENST00000682286.1:n.3543+187_3543+188insAACA (ATM)
ENST00000682302.1:n.3204+187_3204+188insAACA (ATM)
ENST00000683174.1:n.10270+187_10270+188insAACA (ATM)
ENST00000683524.1:n.4010+187_4010+188insAACA (ATM)
ENST00000684152.1:n.4202+187_4202+188insAACA (ATM)
ENST00000684180.1:n.1260+187_1260+188insAACA (ATM)
ENST00000684447.1:n.5279+187_5279+188insAACA (ATM)
ENST00000527805.6:c.*3850+187_*3850+188insAACA (ATM)	ENSP00000435747.2:n.*3850+187_*3850+188insAACA
ENST00000675595.1:c.*3921+187_*3921+188insAACA (ATM)	ENSP00000502563.1:n.*3921+187_*3921+188insAACA
ENST00000675843.1:c.8786+187_8786+188insAACA (ATM) MANE Select	ENSP00000501606.1:n.8786+187_8786+188insAACA
ENST00000278616.8:c.8786+187_8786+188insAACA (ATM)	ENSP00000278616.4:n.8786+187_8786+188insAACA
ENST00000452508.6:c.8786+187_8786+188insAACA (ATM)	ENSP00000388058.2:n.8786+187_8786+188insAACA
ENST00000524755.5:c.227-18773_227-18772insTTGT (C11orf65)
ENST00000524792.5:n.5001+187_5001+188insAACA (ATM)
ENST00000525178.5:n.274+187_274+188insAACA (ATM)
ENST00000525729.5:c.640+31855_640+31856insTTGT (C11orf65)	ENSP00000433395.1:n.640+31855_640+31856insTTGT
ENST00000526725.1:n.272-13701_272-13700insTTGT (C11orf65)
ENST00000527181.1:n.125+187_125+188insAACA (ATM)
ENST00000527531.5:c.*1196+850_*1196+851insTTGT (C11orf65)	ENSP00000431706.1:n.*1196+850_*1196+851insTTGT
ENST00000615746.4:c.*1196+850_*1196+851insTTGT (C11orf65)	ENSP00000483537.1:n.*1196+850_*1196+851insTTGT
NM_000051.3:c.8786+187_8786+188insAACA , LRG_135t1:c.8786+187_8786+188insAACA (ATM)	NP_000042.3:n.8786+187_8786+188insAACA
XM_005271414.3:c.788-18773_788-18772insTTGT (C11orf65)	XP_005271471.1:n.788-18773_788-18772insTTGT
XM_005271415.3:c.732-18773_732-18772insTTGT (C11orf65)	XP_005271472.1:n.732-18773_732-18772insTTGT
XM_005271561.3:c.8786+187_8786+188insAACA (ATM)	XP_005271618.2:n.8786+187_8786+188insAACA
XM_005271562.3:c.8786+187_8786+188insAACA (ATM)	XP_005271619.2:n.8786+187_8786+188insAACA
XM_006718843.2:c.8786+187_8786+188insAACA (ATM)	XP_006718906.1:n.8786+187_8786+188insAACA
XM_006718845.1:c.4742+187_4742+188insAACA (ATM)	XP_006718908.1:n.4742+187_4742+188insAACA
XM_011542640.1:c.788-13701_788-13700insTTGT (C11orf65)	XP_011540942.1:n.788-13701_788-13700insTTGT
XM_011542642.1:c.732-4992_732-4991insTTGT (C11orf65)	XP_011540944.1:n.732-4992_732-4991insTTGT
XM_011542643.1:c.732-13701_732-13700insTTGT (C11orf65)	XP_011540945.1:n.732-13701_732-13700insTTGT
XM_011542840.1:c.8786+187_8786+188insAACA (ATM)	XP_011541142.1:n.8786+187_8786+188insAACA
XM_011542841.1:c.8786+187_8786+188insAACA (ATM)	XP_011541143.1:n.8786+187_8786+188insAACA
XM_011542842.1:c.8621+187_8621+188insAACA (ATM)	XP_011541144.1:n.8621+187_8621+188insAACA
XM_011542844.1:c.7742+187_7742+188insAACA (ATM)	XP_011541146.1:n.7742+187_7742+188insAACA
XM_011542845.1:c.7478+187_7478+188insAACA (ATM)	XP_011541147.1:n.7478+187_7478+188insAACA
XM_011542847.1:c.3857+187_3857+188insAACA (ATM)	XP_011541149.1:n.3857+187_3857+188insAACA
NM_001330368.1:c.640+31855_640+31856insTTGT (C11orf65)	NP_001317297.1:n.640+31855_640+31856insTTGT
NM_001351110.1:c.695-18773_695-18772insTTGT (C11orf65)	NP_001338039.1:n.695-18773_695-18772insTTGT
NM_001351834.1:c.8786+187_8786+188insAACA (ATM)	NP_001338763.1:n.8786+187_8786+188insAACA
NR_147053.2:n.2301+850_2301+851insTTGT (C11orf65)
XM_005271414.4:c.788-18773_788-18772insTTGT (C11orf65)	XP_005271471.1:n.788-18773_788-18772insTTGT
XM_005271415.4:c.732-18773_732-18772insTTGT (C11orf65)	XP_005271472.1:n.732-18773_732-18772insTTGT
XM_005271562.5:c.8786+187_8786+188insAACA (ATM)	XP_005271619.2:n.8786+187_8786+188insAACA
XM_006718843.4:c.8786+187_8786+188insAACA (ATM)	XP_006718906.1:n.8786+187_8786+188insAACA
XM_006718845.2:c.4742+187_4742+188insAACA (ATM)	XP_006718908.1:n.4742+187_4742+188insAACA
XM_011542640.2:c.788-13701_788-13700insTTGT (C11orf65)	XP_011540942.1:n.788-13701_788-13700insTTGT
XM_011542643.2:c.732-13701_732-13700insTTGT (C11orf65)	XP_011540945.1:n.732-13701_732-13700insTTGT
XM_011542840.3:c.8786+187_8786+188insAACA (ATM)	XP_011541142.1:n.8786+187_8786+188insAACA
XM_011542842.3:c.8621+187_8621+188insAACA (ATM)	XP_011541144.1:n.8621+187_8621+188insAACA
XM_011542844.3:c.7742+187_7742+188insAACA (ATM)	XP_011541146.1:n.7742+187_7742+188insAACA
XM_011542845.2:c.7478+187_7478+188insAACA (ATM)	XP_011541147.1:n.7478+187_7478+188insAACA
XM_017017247.1:c.904-13701_904-13700insTTGT (C11orf65)	XP_016872736.1:n.904-13701_904-13700insTTGT
XM_017017789.2:c.8786+187_8786+188insAACA (ATM)	XP_016873278.1:n.8786+187_8786+188insAACA
XM_017017790.2:c.8786+187_8786+188insAACA (ATM)	XP_016873279.1:n.8786+187_8786+188insAACA
NM_001330368.2:c.640+31855_640+31856insTTGT (C11orf65)	NP_001317297.1:n.640+31855_640+31856insTTGT
NM_001351110.2:c.695-18773_695-18772insTTGT (C11orf65)	NP_001338039.1:n.695-18773_695-18772insTTGT
NM_001351834.2:c.8786+187_8786+188insAACA (ATM)	NP_001338763.1:n.8786+187_8786+188insAACA
NM_000051.4:c.8786+187_8786+188insAACA (ATM) MANE Select	NP_000042.3:n.8786+187_8786+188insAACA
NR_147053.3:n.2299+850_2299+851insTTGT (C11orf65)