Canonical Allele Identifier: CA16613410
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

dbSNP Id: rs1060501707
gnomAD v3: 11-108321342-CTG-C
gnomAD v4: 11-108321342-CTG-C
MyVariant Identifiers: chr11:g.108192073_108192074del (hg19) chr11:g.108192070_108192071del (hg19) chr11:g.108321346_108321347del (hg38) chr11:g.108321343_108321344del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108321346_108321347del , CM000673.2:g.108321346_108321347del GRCh38
NC_000011.9:g.108192073_108192074del , CM000673.1:g.108192073_108192074del GRCh37
NC_000011.8:g.107697283_107697284del NCBI36
NG_009830.1:g.103515_103516del , LRG_135:g.103515_103516del
NG_054724.1:g.153489_153490del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.6498_6499del (ATM) ENSP00000388058.2:p.Tyr2167PhefsTer7
ENST00000713593.1:c.*5969_*5970del (ATM) ENSP00000518889.1:n.*5969_*5970del
ENST00000278616.9:c.6498_6499del (ATM) ENSP00000278616.4:p.Tyr2167PhefsTer7
ENST00000525056.2:n.917_918del (ATM)
ENST00000682286.1:n.1255_1256del (ATM)
ENST00000682302.1:n.916_917del (ATM)
ENST00000683174.1:n.7982_7983del (ATM)
ENST00000683524.1:n.1722_1723del (ATM)
ENST00000684152.1:n.2212_2213del (ATM)
ENST00000527805.6:c.*1562_*1563del (ATM) ENSP00000435747.2:n.*1562_*1563del
ENST00000675595.1:c.*1633_*1634del (ATM) ENSP00000502563.1:n.*1633_*1634del
ENST00000675843.1:c.6498_6499del (ATM) MANE Select ENSP00000501606.1:p.Tyr2167PhefsTer7
ENST00000278616.8:c.6498_6499del (ATM) ENSP00000278616.4:p.Tyr2167PhefsTer7
ENST00000452508.6:c.6498_6499del (ATM) ENSP00000388058.2:p.Tyr2167PhefsTer7
ENST00000524792.5:n.2713_2714del (ATM)
ENST00000525729.5:c.641-12273_641-12272del (C11orf65) ENSP00000433395.1:n.641-12273_641-12272de...
ENST00000533690.5:n.1902_1903del (ATM)
NM_000051.3:c.6498_6499del , LRG_135t1:c.6498_6499del (ATM) NP_000042.3:p.Tyr2167PhefsTer7
XM_005271561.3:c.6498_6499del (ATM) XP_005271618.2:p.Tyr2167PhefsTer7
XM_005271562.3:c.6498_6499del (ATM) XP_005271619.2:p.Tyr2167PhefsTer7
XM_006718843.2:c.6498_6499del (ATM) XP_006718906.1:p.Tyr2167PhefsTer7
XM_006718845.1:c.2454_2455del (ATM) XP_006718908.1:p.Tyr819PhefsTer7
XM_011542840.1:c.6498_6499del (ATM) XP_011541142.1:p.Tyr2167PhefsTer7
XM_011542841.1:c.6498_6499del (ATM) XP_011541143.1:p.Tyr2167PhefsTer7
XM_011542842.1:c.6333_6334del (ATM) XP_011541144.1:p.Tyr2112PhefsTer7
XM_011542843.1:c.6498_6499del (ATM) XP_011541145.1:p.Tyr2167PhefsTer7
XM_011542844.1:c.5454_5455del (ATM) XP_011541146.1:p.Tyr1819PhefsTer7
XM_011542845.1:c.5190_5191del (ATM) XP_011541147.1:p.Tyr1731PhefsTer7
XM_011542847.1:c.1569_1570del (ATM) XP_011541149.1:p.Tyr524PhefsTer7
NM_001330368.1:c.641-12273_641-12272del (C11orf65) NP_001317297.1:n.641-12273_641-12272del
NM_001351110.1:c.*39-12273_*39-12272del (C11orf65) NP_001338039.1:n.*39-12273_*39-12272del
NM_001351834.1:c.6498_6499del (ATM) NP_001338763.1:p.Tyr2167PhefsTer7
XM_005271562.5:c.6498_6499del (ATM) XP_005271619.2:p.Tyr2167PhefsTer7
XM_006718843.4:c.6498_6499del (ATM) XP_006718906.1:p.Tyr2167PhefsTer7
XM_006718845.2:c.2454_2455del (ATM) XP_006718908.1:p.Tyr819PhefsTer7
XM_011542840.3:c.6498_6499del (ATM) XP_011541142.1:p.Tyr2167PhefsTer7
XM_011542842.3:c.6333_6334del (ATM) XP_011541144.1:p.Tyr2112PhefsTer7
XM_011542843.2:c.6498_6499del (ATM) XP_011541145.1:p.Tyr2167PhefsTer7
XM_011542844.3:c.5454_5455del (ATM) XP_011541146.1:p.Tyr1819PhefsTer7
XM_011542845.2:c.5190_5191del (ATM) XP_011541147.1:p.Tyr1731PhefsTer7
XM_017017789.2:c.6498_6499del (ATM) XP_016873278.1:p.Tyr2167PhefsTer7
XM_017017790.2:c.6498_6499del (ATM) XP_016873279.1:p.Tyr2167PhefsTer7
NM_001330368.2:c.641-12273_641-12272del (C11orf65) NP_001317297.1:n.641-12273_641-12272del
NM_001351110.2:c.*39-12273_*39-12272del (C11orf65) NP_001338039.1:n.*39-12273_*39-12272del
NM_001351834.2:c.6498_6499del (ATM) NP_001338763.1:p.Tyr2167PhefsTer7
NM_000051.4:c.6498_6499del (ATM) MANE Select NP_000042.3:p.Tyr2167PhefsTer7
Search 100 bp 5'
Search 100 bp 3'