Canonical Allele Identifier: CA2615862181
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

gnomAD v4: 11-108332687-CTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108332689_108332690del , CM000673.2:g.108332689_108332690del GRCh38
NC_000011.9:g.108203416_108203417del , CM000673.1:g.108203416_108203417del GRCh37
NC_000011.8:g.107708626_107708627del NCBI36
NG_009830.1:g.114858_114859del , LRG_135:g.114858_114859del
NG_054724.1:g.142144_142145del

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7789-73_7789-72del (ATM) ENSP00000388058.2:n.7789-73_7789-72del
ENST00000713593.1:c.*7260-73_*7260-72del (ATM) ENSP00000518889.1:n.*7260-73_*7260-72del
ENST00000278616.9:c.7789-73_7789-72del (ATM) ENSP00000278616.4:n.7789-73_7789-72del
ENST00000525056.2:n.2208-73_2208-72del (ATM)
ENST00000525537.3:n.1397_1398del (ATM)
ENST00000638786.2:n.625+652_625+653del (ATM)
ENST00000682286.1:n.2546-73_2546-72del (ATM)
ENST00000682302.1:n.2207-73_2207-72del (ATM)
ENST00000683174.1:n.9273-73_9273-72del (ATM)
ENST00000683524.1:n.3013-73_3013-72del (ATM)
ENST00000684152.1:n.3343+1132_3343+1133del (ATM)
ENST00000684180.1:n.190_191del (ATM)
ENST00000684447.1:n.3224_3225del (ATM)
ENST00000527805.6:c.*2853-73_*2853-72del (ATM) ENSP00000435747.2:n.*2853-73_*2853-72del
ENST00000675595.1:c.*2924-73_*2924-72del (ATM) ENSP00000502563.1:n.*2924-73_*2924-72del
ENST00000675843.1:c.7789-73_7789-72del (ATM) MANE Select ENSP00000501606.1:n.7789-73_7789-72del
ENST00000278616.8:c.7789-73_7789-72del (ATM) ENSP00000278616.4:n.7789-73_7789-72del
ENST00000452508.6:c.7789-73_7789-72del (ATM) ENSP00000388058.2:n.7789-73_7789-72del
ENST00000524755.5:c.300-1122_300-1121del (C11orf65)
ENST00000524792.5:n.4004-73_4004-72del (ATM)
ENST00000525729.5:c.641-23618_641-23617del (C11orf65) ENSP00000433395.1:n.641-23618_641-23617del
ENST00000527531.5:c.*1270-1122_*1270-1121del (C11orf65) ENSP00000431706.1:n.*1270-1122_*1270-1121del
ENST00000533690.5:n.3193-73_3193-72del (ATM)
ENST00000615746.4:c.*1270-1122_*1270-1121del (C11orf65) ENSP00000483537.1:n.*1270-1122_*1270-1121del
NM_000051.3:c.7789-73_7789-72del , LRG_135t1:c.7789-73_7789-72del (ATM) NP_000042.3:n.7789-73_7789-72del
XM_005271414.3:c.*39-1122_*39-1121del (C11orf65) XP_005271471.1:n.*39-1122_*39-1121del
XM_005271415.3:c.805-1122_805-1121del (C11orf65) XP_005271472.1:n.805-1122_805-1121del
XM_005271561.3:c.7789-73_7789-72del (ATM) XP_005271618.2:n.7789-73_7789-72del
XM_005271562.3:c.7789-73_7789-72del (ATM) XP_005271619.2:n.7789-73_7789-72del
XM_006718843.2:c.7789-73_7789-72del (ATM) XP_006718906.1:n.7789-73_7789-72del
XM_006718845.1:c.3745-73_3745-72del (ATM) XP_006718908.1:n.3745-73_3745-72del
XM_011542840.1:c.7789-73_7789-72del (ATM) XP_011541142.1:n.7789-73_7789-72del
XM_011542841.1:c.7789-73_7789-72del (ATM) XP_011541143.1:n.7789-73_7789-72del
XM_011542842.1:c.7624-73_7624-72del (ATM) XP_011541144.1:n.7624-73_7624-72del
XM_011542843.1:c.7789-73_7789-72del (ATM) XP_011541145.1:n.7789-73_7789-72del
XM_011542844.1:c.6745-73_6745-72del (ATM) XP_011541146.1:n.6745-73_6745-72del
XM_011542845.1:c.6481-73_6481-72del (ATM) XP_011541147.1:n.6481-73_6481-72del
XM_011542847.1:c.2860-73_2860-72del (ATM) XP_011541149.1:n.2860-73_2860-72del
NM_001330368.1:c.641-23618_641-23617del (C11orf65) NP_001317297.1:n.641-23618_641-23617del
NM_001351110.1:c.*38+2531_*38+2532del (C11orf65) NP_001338039.1:n.*38+2531_*38+2532del
NM_001351834.1:c.7789-73_7789-72del (ATM) NP_001338763.1:n.7789-73_7789-72del
NR_147053.2:n.2375-1122_2375-1121del (C11orf65)
XM_005271414.4:c.*39-1122_*39-1121del (C11orf65) XP_005271471.1:n.*39-1122_*39-1121del
XM_005271415.4:c.805-1122_805-1121del (C11orf65) XP_005271472.1:n.805-1122_805-1121del
XM_005271562.5:c.7789-73_7789-72del (ATM) XP_005271619.2:n.7789-73_7789-72del
XM_006718843.4:c.7789-73_7789-72del (ATM) XP_006718906.1:n.7789-73_7789-72del
XM_006718845.2:c.3745-73_3745-72del (ATM) XP_006718908.1:n.3745-73_3745-72del
XM_011542840.3:c.7789-73_7789-72del (ATM) XP_011541142.1:n.7789-73_7789-72del
XM_011542842.3:c.7624-73_7624-72del (ATM) XP_011541144.1:n.7624-73_7624-72del
XM_011542843.2:c.7789-73_7789-72del (ATM) XP_011541145.1:n.7789-73_7789-72del
XM_011542844.3:c.6745-73_6745-72del (ATM) XP_011541146.1:n.6745-73_6745-72del
XM_011542845.2:c.6481-73_6481-72del (ATM) XP_011541147.1:n.6481-73_6481-72del
XM_017017789.2:c.7789-73_7789-72del (ATM) XP_016873278.1:n.7789-73_7789-72del
XM_017017790.2:c.7789-73_7789-72del (ATM) XP_016873279.1:n.7789-73_7789-72del
NM_001330368.2:c.641-23618_641-23617del (C11orf65) NP_001317297.1:n.641-23618_641-23617del
NM_001351110.2:c.*38+2531_*38+2532del (C11orf65) NP_001338039.1:n.*38+2531_*38+2532del
NM_001351834.2:c.7789-73_7789-72del (ATM) NP_001338763.1:n.7789-73_7789-72del
NM_000051.4:c.7789-73_7789-72del (ATM) MANE Select NP_000042.3:n.7789-73_7789-72del
NR_147053.3:n.2373-1122_2373-1121del (C11orf65)
Search 100 bp 5'
Search 100 bp 3'