Canonical Allele Identifier: CA658797750

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 524315
• ClinVar RCV Id: RCV000628010
• dbSNP Id: rs1555126295
• MyVariant Identifiers: chr11:g.108204676_108204703dup (hg19) ; chr11:g.108333949_108333976dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333949_108333976dup , CM000673.2:g.108333949_108333976dup	GRCh38
NC_000011.9:g.108204676_108204703dup , CM000673.1:g.108204676_108204703dup	GRCh37
NC_000011.8:g.107709886_107709913dup	NCBI36
NG_009830.1:g.116118_116145dup , LRG_135:g.116118_116145dup
NG_054724.1:g.140860_140887dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.7991_8010+8dup (ATM)
ENST00000713593.1:c.*7462_*7481+8dup (ATM)
ENST00000278616.9:c.7991_8010+8dup (ATM)
ENST00000525056.2:n.2410_2429+8dup (ATM)
ENST00000638786.2:n.689_708+8dup (ATM)
ENST00000682286.1:n.2748_2767+8dup (ATM)
ENST00000682302.1:n.2409_2428+8dup (ATM)
ENST00000683174.1:n.9475_9494+8dup (ATM)
ENST00000683524.1:n.3215_3234+8dup (ATM)
ENST00000684152.1:n.3407_3426+8dup (ATM)
ENST00000684180.1:n.465_484+8dup (ATM)
ENST00000684447.1:n.4484_4503+8dup (ATM)
ENST00000527805.6:c.*3055_*3074+8dup (ATM)
ENST00000675595.1:c.*3126_*3145+8dup (ATM)
ENST00000675843.1:c.7991_8010+8dup (ATM)
ENST00000278616.8:c.7991_8010+8dup (ATM)
ENST00000452508.6:c.7991_8010+8dup (ATM)
ENST00000524755.5:c.299+1247_299+1274dup (C11orf65)
ENST00000524792.5:n.4206_4225+8dup (ATM)
ENST00000525056.1:n.188_207+8dup (ATM)
ENST00000525729.5:c.641-24902_641-24875dup (C11orf65)	ENSP00000433395.1:n.641-24902_641-24875du...
ENST00000527531.5:c.*1269+1247_*1269+1274dup (C11orf65)	ENSP00000431706.1:n.*1269+1247_*1269+1274...
ENST00000533979.5:n.203_222+8dup (ATM)
ENST00000615746.4:c.*1269+1247_*1269+1274dup (C11orf65)	ENSP00000483537.1:n.*1269+1247_*1269+1274...
NM_000051.3:c.7991_8010+8dup , LRG_135t1:c.7991_8010+8dup (ATM)
XM_005271414.3:c.*38+1247_*38+1274dup (C11orf65)	XP_005271471.1:n.*38+1247_*38+1274dup
XM_005271415.3:c.804+1247_804+1274dup (C11orf65)	XP_005271472.1:n.804+1247_804+1274dup
XM_005271561.3:c.7991_8010+8dup (ATM)
XM_005271562.3:c.7991_8010+8dup (ATM)
XM_006718843.2:c.7991_8010+8dup (ATM)
XM_006718845.1:c.3947_3966+8dup (ATM)
XM_011542840.1:c.7991_8010+8dup (ATM)
XM_011542841.1:c.7991_8010+8dup (ATM)
XM_011542842.1:c.7826_7845+8dup (ATM)
XM_011542843.1:c.7991_8010+8dup (ATM)
XM_011542844.1:c.6947_6966+8dup (ATM)
XM_011542845.1:c.6683_6702+8dup (ATM)
XM_011542847.1:c.3062_3081+8dup (ATM)
NM_001330368.1:c.641-24902_641-24875dup (C11orf65)	NP_001317297.1:n.641-24902_641-24875dup
NM_001351110.1:c.*38+1247_*38+1274dup (C11orf65)	NP_001338039.1:n.*38+1247_*38+1274dup
NM_001351834.1:c.7991_8010+8dup (ATM)
NR_147053.2:n.2374+1247_2374+1274dup (C11orf65)
XM_005271414.4:c.*38+1247_*38+1274dup (C11orf65)	XP_005271471.1:n.*38+1247_*38+1274dup
XM_005271415.4:c.804+1247_804+1274dup (C11orf65)	XP_005271472.1:n.804+1247_804+1274dup
XM_005271562.5:c.7991_8010+8dup (ATM)
XM_006718843.4:c.7991_8010+8dup (ATM)
XM_006718845.2:c.3947_3966+8dup (ATM)
XM_011542840.3:c.7991_8010+8dup (ATM)
XM_011542842.3:c.7826_7845+8dup (ATM)
XM_011542843.2:c.7991_8010+8dup (ATM)
XM_011542844.3:c.6947_6966+8dup (ATM)
XM_011542845.2:c.6683_6702+8dup (ATM)
XM_017017789.2:c.7991_8010+8dup (ATM)
XM_017017790.2:c.7991_8010+8dup (ATM)
NM_001330368.2:c.641-24902_641-24875dup (C11orf65)	NP_001317297.1:n.641-24902_641-24875dup
NM_001351110.2:c.*38+1247_*38+1274dup (C11orf65)	NP_001338039.1:n.*38+1247_*38+1274dup
NM_001351834.2:c.7991_8010+8dup (ATM)
NM_000051.4:c.7991_8010+8dup (ATM)
NR_147053.3:n.2372+1247_2372+1274dup (C11orf65)