Canonical Allele Identifier: CA2615862163
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

gnomAD v4: 11-108347207-T-TCTCGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108347207_108347208insCTCGG , CM000673.2:g.108347207_108347208insCTCGG GRCh38
NC_000011.9:g.108217934_108217935insCTCGG , CM000673.1:g.108217934_108217935insCTCGG GRCh37
NC_000011.8:g.107723144_107723145insCTCGG NCBI36
NG_009830.1:g.129376_129377insCTCGG , LRG_135:g.129376_129377insCTCGG
NG_054724.1:g.127625_127626insCCGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.8585-72_8585-71insCTCGG (ATM) ENSP00000388058.2:n.8585-72_8585-71insCTCGG
ENST00000713593.1:c.*8056-72_*8056-71insCTCGG (ATM) ENSP00000518889.1:n.*8056-72_*8056-71insCTCGG
ENST00000278616.9:c.8585-72_8585-71insCTCGG (ATM) ENSP00000278616.4:n.8585-72_8585-71insCTCGG
ENST00000638786.2:n.1283-72_1283-71insCTCGG (ATM)
ENST00000682286.1:n.3342-72_3342-71insCTCGG (ATM)
ENST00000682302.1:n.3003-72_3003-71insCTCGG (ATM)
ENST00000683174.1:n.10069-72_10069-71insCTCGG (ATM)
ENST00000683524.1:n.3809-72_3809-71insCTCGG (ATM)
ENST00000684152.1:n.4001-72_4001-71insCTCGG (ATM)
ENST00000684180.1:n.1059-72_1059-71insCTCGG (ATM)
ENST00000684447.1:n.5078-72_5078-71insCTCGG (ATM)
ENST00000527805.6:c.*3649-72_*3649-71insCTCGG (ATM) ENSP00000435747.2:n.*3649-72_*3649-71insCTCGG
ENST00000675595.1:c.*3720-72_*3720-71insCTCGG (ATM) ENSP00000502563.1:n.*3720-72_*3720-71insCTCGG
ENST00000675843.1:c.8585-72_8585-71insCTCGG (ATM) MANE Select ENSP00000501606.1:n.8585-72_8585-71insCTCGG
ENST00000278616.8:c.8585-72_8585-71insCTCGG (ATM) ENSP00000278616.4:n.8585-72_8585-71insCTCGG
ENST00000452508.6:c.8585-72_8585-71insCTCGG (ATM) ENSP00000388058.2:n.8585-72_8585-71insCTCGG
ENST00000524755.5:c.227-11916_227-11915insCCGAG (C11orf65)
ENST00000524792.5:n.4800-72_4800-71insCTCGG (ATM)
ENST00000525178.5:n.73-72_73-71insCTCGG (ATM)
ENST00000525729.5:c.641-38137_641-38136insCCGAG (C11orf65) ENSP00000433395.1:n.641-38137_641-38136insCCGAG
ENST00000526725.1:n.272-6844_272-6843insCCGAG (C11orf65)
ENST00000527531.5:c.*1196+7707_*1196+7708insCCGAG (C11orf65) ENSP00000431706.1:n.*1196+7707_*1196+7708insCCGAG
ENST00000615746.4:c.*1196+7707_*1196+7708insCCGAG (C11orf65) ENSP00000483537.1:n.*1196+7707_*1196+7708insCCGAG
NM_000051.3:c.8585-72_8585-71insCTCGG , LRG_135t1:c.8585-72_8585-71insCTCGG (ATM) NP_000042.3:n.8585-72_8585-71insCTCGG
XM_005271414.3:c.788-11916_788-11915insCCGAG (C11orf65) XP_005271471.1:n.788-11916_788-11915insCCGAG
XM_005271415.3:c.732-11916_732-11915insCCGAG (C11orf65) XP_005271472.1:n.732-11916_732-11915insCCGAG
XM_005271561.3:c.8585-72_8585-71insCTCGG (ATM) XP_005271618.2:n.8585-72_8585-71insCTCGG
XM_005271562.3:c.8585-72_8585-71insCTCGG (ATM) XP_005271619.2:n.8585-72_8585-71insCTCGG
XM_006718843.2:c.8585-72_8585-71insCTCGG (ATM) XP_006718906.1:n.8585-72_8585-71insCTCGG
XM_006718845.1:c.4541-72_4541-71insCTCGG (ATM) XP_006718908.1:n.4541-72_4541-71insCTCGG
XM_011542640.1:c.788-6844_788-6843insCCGAG (C11orf65) XP_011540942.1:n.788-6844_788-6843insCCGAG
XM_011542643.1:c.732-6844_732-6843insCCGAG (C11orf65) XP_011540945.1:n.732-6844_732-6843insCCGAG
XM_011542840.1:c.8585-72_8585-71insCTCGG (ATM) XP_011541142.1:n.8585-72_8585-71insCTCGG
XM_011542841.1:c.8585-72_8585-71insCTCGG (ATM) XP_011541143.1:n.8585-72_8585-71insCTCGG
XM_011542842.1:c.8420-72_8420-71insCTCGG (ATM) XP_011541144.1:n.8420-72_8420-71insCTCGG
XM_011542843.1:c.8585-72_8585-71insCTCGG (ATM) XP_011541145.1:n.8585-72_8585-71insCTCGG
XM_011542844.1:c.7541-72_7541-71insCTCGG (ATM) XP_011541146.1:n.7541-72_7541-71insCTCGG
XM_011542845.1:c.7277-72_7277-71insCTCGG (ATM) XP_011541147.1:n.7277-72_7277-71insCTCGG
XM_011542847.1:c.3656-72_3656-71insCTCGG (ATM) XP_011541149.1:n.3656-72_3656-71insCTCGG
NM_001330368.1:c.641-38137_641-38136insCCGAG (C11orf65) NP_001317297.1:n.641-38137_641-38136insCCGAG
NM_001351110.1:c.695-11916_695-11915insCCGAG (C11orf65) NP_001338039.1:n.695-11916_695-11915insCCGAG
NM_001351834.1:c.8585-72_8585-71insCTCGG (ATM) NP_001338763.1:n.8585-72_8585-71insCTCGG
NR_147053.2:n.2301+7707_2301+7708insCCGAG (C11orf65)
XM_005271414.4:c.788-11916_788-11915insCCGAG (C11orf65) XP_005271471.1:n.788-11916_788-11915insCCGAG
XM_005271415.4:c.732-11916_732-11915insCCGAG (C11orf65) XP_005271472.1:n.732-11916_732-11915insCCGAG
XM_005271562.5:c.8585-72_8585-71insCTCGG (ATM) XP_005271619.2:n.8585-72_8585-71insCTCGG
XM_006718843.4:c.8585-72_8585-71insCTCGG (ATM) XP_006718906.1:n.8585-72_8585-71insCTCGG
XM_006718845.2:c.4541-72_4541-71insCTCGG (ATM) XP_006718908.1:n.4541-72_4541-71insCTCGG
XM_011542640.2:c.788-6844_788-6843insCCGAG (C11orf65) XP_011540942.1:n.788-6844_788-6843insCCGAG
XM_011542643.2:c.732-6844_732-6843insCCGAG (C11orf65) XP_011540945.1:n.732-6844_732-6843insCCGAG
XM_011542840.3:c.8585-72_8585-71insCTCGG (ATM) XP_011541142.1:n.8585-72_8585-71insCTCGG
XM_011542842.3:c.8420-72_8420-71insCTCGG (ATM) XP_011541144.1:n.8420-72_8420-71insCTCGG
XM_011542843.2:c.8585-72_8585-71insCTCGG (ATM) XP_011541145.1:n.8585-72_8585-71insCTCGG
XM_011542844.3:c.7541-72_7541-71insCTCGG (ATM) XP_011541146.1:n.7541-72_7541-71insCTCGG
XM_011542845.2:c.7277-72_7277-71insCTCGG (ATM) XP_011541147.1:n.7277-72_7277-71insCTCGG
XM_017017247.1:c.904-6844_904-6843insCCGAG (C11orf65) XP_016872736.1:n.904-6844_904-6843insCCGAG
XM_017017789.2:c.8585-72_8585-71insCTCGG (ATM) XP_016873278.1:n.8585-72_8585-71insCTCGG
XM_017017790.2:c.8585-72_8585-71insCTCGG (ATM) XP_016873279.1:n.8585-72_8585-71insCTCGG
NM_001330368.2:c.641-38137_641-38136insCCGAG (C11orf65) NP_001317297.1:n.641-38137_641-38136insCCGAG
NM_001351110.2:c.695-11916_695-11915insCCGAG (C11orf65) NP_001338039.1:n.695-11916_695-11915insCCGAG
NM_001351834.2:c.8585-72_8585-71insCTCGG (ATM) NP_001338763.1:n.8585-72_8585-71insCTCGG
NM_000051.4:c.8585-72_8585-71insCTCGG (ATM) MANE Select NP_000042.3:n.8585-72_8585-71insCTCGG
NR_147053.3:n.2299+7707_2299+7708insCCGAG (C11orf65)
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