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

Linked Data

ClinVar Variation Id: 407729
ClinVar RCV Id: RCV000463968
dbSNP Id: rs1060501707

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
ENST00000527805.6:c.*1562_*1563del ENSP00000435747.2:p.=
ENST00000675595.1:c.*1633_*1634del ENSP00000502563.1:p.=
ENST00000675843.1:c.6498_6499del MANE Select ENSP00000501606.1:p.Tyr2167PhefsTer7
ENST00000278616.8:c.6498_6499del ENSP00000278616.4:p.Tyr2167PhefsTer7
ENST00000452508.6:c.6498_6499del ENSP00000388058.2:p.Tyr2167PhefsTer7
ENST00000524792.5:n.2713_2714del
ENST00000525729.5:c.641-12273_641-12272del ENSP00000433395.1:p.=
ENST00000533690.5:n.1902_1903del
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:p.=
NM_001351110.1:c.*39-12273_*39-12272del (C11orf65) NP_001338039.1:p.=
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:p.=
NM_001351110.2:c.*39-12273_*39-12272del (C11orf65) NP_001338039.1:p.=
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