Canonical Allele Identifier: CA2793553533
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108347211_108347213del , CM000673.2:g.108347211_108347213del GRCh38
NC_000011.9:g.108217938_108217940del , CM000673.1:g.108217938_108217940del GRCh37
NC_000011.8:g.107723148_107723150del NCBI36
NG_009830.1:g.129380_129382del , LRG_135:g.129380_129382del
NG_054724.1:g.127620_127622del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.8585-68_8585-66del (ATM) ENSP00000388058.2:n.8585-68_8585-66del
ENST00000713593.1:c.*8056-68_*8056-66del (ATM) ENSP00000518889.1:n.*8056-68_*8056-66del
ENST00000278616.9:c.8585-68_8585-66del (ATM) ENSP00000278616.4:n.8585-68_8585-66del
ENST00000638786.2:n.1283-68_1283-66del (ATM)
ENST00000682286.1:n.3342-68_3342-66del (ATM)
ENST00000682302.1:n.3003-68_3003-66del (ATM)
ENST00000683174.1:n.10069-68_10069-66del (ATM)
ENST00000683524.1:n.3809-68_3809-66del (ATM)
ENST00000684152.1:n.4001-68_4001-66del (ATM)
ENST00000684180.1:n.1059-68_1059-66del (ATM)
ENST00000684447.1:n.5078-68_5078-66del (ATM)
ENST00000527805.6:c.*3649-68_*3649-66del (ATM) ENSP00000435747.2:n.*3649-68_*3649-66del
ENST00000675595.1:c.*3720-68_*3720-66del (ATM) ENSP00000502563.1:n.*3720-68_*3720-66del
ENST00000675843.1:c.8585-68_8585-66del (ATM) MANE Select ENSP00000501606.1:n.8585-68_8585-66del
ENST00000278616.8:c.8585-68_8585-66del (ATM) ENSP00000278616.4:n.8585-68_8585-66del
ENST00000452508.6:c.8585-68_8585-66del (ATM) ENSP00000388058.2:n.8585-68_8585-66del
ENST00000524755.5:c.227-11921_227-11919del (C11orf65)
ENST00000524792.5:n.4800-68_4800-66del (ATM)
ENST00000525178.5:n.73-68_73-66del (ATM)
ENST00000525729.5:c.641-38142_641-38140del (C11orf65) ENSP00000433395.1:n.641-38142_641-38140del
ENST00000526725.1:n.272-6849_272-6847del (C11orf65)
ENST00000527531.5:c.*1196+7702_*1196+7704del (C11orf65) ENSP00000431706.1:n.*1196+7702_*1196+7704del
ENST00000615746.4:c.*1196+7702_*1196+7704del (C11orf65) ENSP00000483537.1:n.*1196+7702_*1196+7704del
NM_000051.3:c.8585-68_8585-66del , LRG_135t1:c.8585-68_8585-66del (ATM) NP_000042.3:n.8585-68_8585-66del
XM_005271414.3:c.788-11921_788-11919del (C11orf65) XP_005271471.1:n.788-11921_788-11919del
XM_005271415.3:c.732-11921_732-11919del (C11orf65) XP_005271472.1:n.732-11921_732-11919del
XM_005271561.3:c.8585-68_8585-66del (ATM) XP_005271618.2:n.8585-68_8585-66del
XM_005271562.3:c.8585-68_8585-66del (ATM) XP_005271619.2:n.8585-68_8585-66del
XM_006718843.2:c.8585-68_8585-66del (ATM) XP_006718906.1:n.8585-68_8585-66del
XM_006718845.1:c.4541-68_4541-66del (ATM) XP_006718908.1:n.4541-68_4541-66del
XM_011542640.1:c.788-6849_788-6847del (C11orf65) XP_011540942.1:n.788-6849_788-6847del
XM_011542643.1:c.732-6849_732-6847del (C11orf65) XP_011540945.1:n.732-6849_732-6847del
XM_011542840.1:c.8585-68_8585-66del (ATM) XP_011541142.1:n.8585-68_8585-66del
XM_011542841.1:c.8585-68_8585-66del (ATM) XP_011541143.1:n.8585-68_8585-66del
XM_011542842.1:c.8420-68_8420-66del (ATM) XP_011541144.1:n.8420-68_8420-66del
XM_011542843.1:c.8585-68_8585-66del (ATM) XP_011541145.1:n.8585-68_8585-66del
XM_011542844.1:c.7541-68_7541-66del (ATM) XP_011541146.1:n.7541-68_7541-66del
XM_011542845.1:c.7277-68_7277-66del (ATM) XP_011541147.1:n.7277-68_7277-66del
XM_011542847.1:c.3656-68_3656-66del (ATM) XP_011541149.1:n.3656-68_3656-66del
NM_001330368.1:c.641-38142_641-38140del (C11orf65) NP_001317297.1:n.641-38142_641-38140del
NM_001351110.1:c.695-11921_695-11919del (C11orf65) NP_001338039.1:n.695-11921_695-11919del
NM_001351834.1:c.8585-68_8585-66del (ATM) NP_001338763.1:n.8585-68_8585-66del
NR_147053.2:n.2301+7702_2301+7704del (C11orf65)
XM_005271414.4:c.788-11921_788-11919del (C11orf65) XP_005271471.1:n.788-11921_788-11919del
XM_005271415.4:c.732-11921_732-11919del (C11orf65) XP_005271472.1:n.732-11921_732-11919del
XM_005271562.5:c.8585-68_8585-66del (ATM) XP_005271619.2:n.8585-68_8585-66del
XM_006718843.4:c.8585-68_8585-66del (ATM) XP_006718906.1:n.8585-68_8585-66del
XM_006718845.2:c.4541-68_4541-66del (ATM) XP_006718908.1:n.4541-68_4541-66del
XM_011542640.2:c.788-6849_788-6847del (C11orf65) XP_011540942.1:n.788-6849_788-6847del
XM_011542643.2:c.732-6849_732-6847del (C11orf65) XP_011540945.1:n.732-6849_732-6847del
XM_011542840.3:c.8585-68_8585-66del (ATM) XP_011541142.1:n.8585-68_8585-66del
XM_011542842.3:c.8420-68_8420-66del (ATM) XP_011541144.1:n.8420-68_8420-66del
XM_011542843.2:c.8585-68_8585-66del (ATM) XP_011541145.1:n.8585-68_8585-66del
XM_011542844.3:c.7541-68_7541-66del (ATM) XP_011541146.1:n.7541-68_7541-66del
XM_011542845.2:c.7277-68_7277-66del (ATM) XP_011541147.1:n.7277-68_7277-66del
XM_017017247.1:c.904-6849_904-6847del (C11orf65) XP_016872736.1:n.904-6849_904-6847del
XM_017017789.2:c.8585-68_8585-66del (ATM) XP_016873278.1:n.8585-68_8585-66del
XM_017017790.2:c.8585-68_8585-66del (ATM) XP_016873279.1:n.8585-68_8585-66del
NM_001330368.2:c.641-38142_641-38140del (C11orf65) NP_001317297.1:n.641-38142_641-38140del
NM_001351110.2:c.695-11921_695-11919del (C11orf65) NP_001338039.1:n.695-11921_695-11919del
NM_001351834.2:c.8585-68_8585-66del (ATM) NP_001338763.1:n.8585-68_8585-66del
NM_000051.4:c.8585-68_8585-66del (ATM) MANE Select NP_000042.3:n.8585-68_8585-66del
NR_147053.3:n.2299+7702_2299+7704del (C11orf65)