Canonical Allele Identifier: CA476677036
Gene: ATM HGNC NCBI
C11orf65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.108202191A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108331464A>T , CM000673.2:g.108331464A>T GRCh38
NC_000011.9:g.108202191A>T , CM000673.1:g.108202191A>T GRCh37
NC_000011.8:g.107707401A>T NCBI36
NG_009830.1:g.113633A>T , LRG_135:g.113633A>T
NG_054724.1:g.143369T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.7536A>T (ATM) ENSP00000388058.2:p.Pro2512=
ENST00000713593.1:c.*7007A>T (ATM) ENSP00000518889.1:n.*7007A>T
ENST00000278616.9:c.7536A>T (ATM) ENSP00000278616.4:p.Pro2512=
ENST00000525056.2:n.1955A>T (ATM)
ENST00000525537.3:n.493A>T (ATM)
ENST00000638786.2:n.373A>T (ATM)
ENST00000682286.1:n.2293A>T (ATM)
ENST00000682302.1:n.1954A>T (ATM)
ENST00000683174.1:n.9020A>T (ATM)
ENST00000683524.1:n.2760A>T (ATM)
ENST00000684152.1:n.3250A>T (ATM)
ENST00000684447.1:n.1999A>T (ATM)
ENST00000527805.6:c.*2600A>T (ATM) ENSP00000435747.2:n.*2600A>T
ENST00000675595.1:c.*2671A>T (ATM) ENSP00000502563.1:n.*2671A>T
ENST00000675843.1:c.7536A>T (ATM) MANE Select ENSP00000501606.1:p.Pro2512=
ENST00000278616.8:c.7536A>T (ATM) ENSP00000278616.4:p.Pro2512=
ENST00000452508.6:c.7536A>T (ATM) ENSP00000388058.2:p.Pro2512=
ENST00000524755.5:c.403T>A (C11orf65)
ENST00000524792.5:n.3751A>T (ATM)
ENST00000525729.5:c.641-22393T>A (C11orf65) ENSP00000433395.1:n.641-22393T>A
ENST00000527531.5:c.*1373T>A (C11orf65) ENSP00000431706.1:n.*1373T>A
ENST00000533690.5:n.2940A>T (ATM)
ENST00000615746.4:c.*1373T>A (C11orf65) ENSP00000483537.1:n.*1373T>A
NM_000051.3:c.7536A>T , LRG_135t1:c.7536A>T (ATM) NP_000042.3:p.Pro2512=
XM_005271415.3:c.*86T>A (C11orf65) XP_005271472.1:n.*86T>A
XM_005271561.3:c.7536A>T (ATM) XP_005271618.2:p.Pro2512=
XM_005271562.3:c.7536A>T (ATM) XP_005271619.2:p.Pro2512=
XM_006718843.2:c.7536A>T (ATM) XP_006718906.1:p.Pro2512=
XM_006718845.1:c.3492A>T (ATM) XP_006718908.1:p.Pro1164=
XM_011542840.1:c.7536A>T (ATM) XP_011541142.1:p.Pro2512=
XM_011542841.1:c.7536A>T (ATM) XP_011541143.1:p.Pro2512=
XM_011542842.1:c.7371A>T (ATM) XP_011541144.1:p.Pro2457=
XM_011542843.1:c.7536A>T (ATM) XP_011541145.1:p.Pro2512=
XM_011542844.1:c.6492A>T (ATM) XP_011541146.1:p.Pro2164=
XM_011542845.1:c.6228A>T (ATM) XP_011541147.1:p.Pro2076=
XM_011542847.1:c.2607A>T (ATM) XP_011541149.1:p.Pro869=
NM_001330368.1:c.641-22393T>A (C11orf65) NP_001317297.1:n.641-22393T>A
NM_001351110.1:c.*38+3756T>A (C11orf65) NP_001338039.1:n.*38+3756T>A
NM_001351834.1:c.7536A>T (ATM) NP_001338763.1:p.Pro2512=
NR_147053.2:n.2478T>A (C11orf65)
XM_005271414.4:c.*142T>A (C11orf65) XP_005271471.1:n.*142T>A
XM_005271415.4:c.*86T>A (C11orf65) XP_005271472.1:n.*86T>A
XM_005271562.5:c.7536A>T (ATM) XP_005271619.2:p.Pro2512=
XM_006718843.4:c.7536A>T (ATM) XP_006718906.1:p.Pro2512=
XM_006718845.2:c.3492A>T (ATM) XP_006718908.1:p.Pro1164=
XM_011542840.3:c.7536A>T (ATM) XP_011541142.1:p.Pro2512=
XM_011542842.3:c.7371A>T (ATM) XP_011541144.1:p.Pro2457=
XM_011542843.2:c.7536A>T (ATM) XP_011541145.1:p.Pro2512=
XM_011542844.3:c.6492A>T (ATM) XP_011541146.1:p.Pro2164=
XM_011542845.2:c.6228A>T (ATM) XP_011541147.1:p.Pro2076=
XM_017017789.2:c.7536A>T (ATM) XP_016873278.1:p.Pro2512=
XM_017017790.2:c.7536A>T (ATM) XP_016873279.1:p.Pro2512=
NM_001330368.2:c.641-22393T>A (C11orf65) NP_001317297.1:n.641-22393T>A
NM_001351110.2:c.*38+3756T>A (C11orf65) NP_001338039.1:n.*38+3756T>A
NM_001351834.2:c.7536A>T (ATM) NP_001338763.1:p.Pro2512=
NM_000051.4:c.7536A>T (ATM) MANE Select NP_000042.3:p.Pro2512=
NR_147053.3:n.2476T>A (C11orf65)