Canonical Allele Identifier: CA192135

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 185499
• ClinVar RCV Id: RCV000164939 ; RCV000588681 ; RCV000628009
• dbSNP Id: rs786202223
• gnomAD v4: 11-108347287-A-G
• MyVariant Identifiers: chr11:g.108218014A>G (hg19) ; chr11:g.108347287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108347287A>G , CM000673.2:g.108347287A>G	GRCh38
NC_000011.9:g.108218014A>G , CM000673.1:g.108218014A>G	GRCh37
NC_000011.8:g.107723224A>G	NCBI36
NG_009830.1:g.129456A>G , LRG_135:g.129456A>G
NG_054724.1:g.127546T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8593A>G (ATM)	ENSP00000388058.2:p.Ile2865Val
ENST00000713593.1:c.*8064A>G (ATM)	ENSP00000518889.1:n.*8064A>G
ENST00000278616.9:c.8593A>G (ATM)	ENSP00000278616.4:p.Ile2865Val
ENST00000638786.2:n.1291A>G (ATM)
ENST00000682286.1:n.3350A>G (ATM)
ENST00000682302.1:n.3011A>G (ATM)
ENST00000683174.1:n.10077A>G (ATM)
ENST00000683524.1:n.3817A>G (ATM)
ENST00000684152.1:n.4009A>G (ATM)
ENST00000684180.1:n.1067A>G (ATM)
ENST00000684447.1:n.5086A>G (ATM)
ENST00000527805.6:c.*3657A>G (ATM)	ENSP00000435747.2:n.*3657A>G
ENST00000675595.1:c.*3728A>G (ATM)	ENSP00000502563.1:n.*3728A>G
ENST00000675843.1:c.8593A>G (ATM) MANE Select	ENSP00000501606.1:p.Ile2865Val
ENST00000278616.8:c.8593A>G (ATM)	ENSP00000278616.4:p.Ile2865Val
ENST00000452508.6:c.8593A>G (ATM)	ENSP00000388058.2:p.Ile2865Val
ENST00000524755.5:c.227-11995T>C (C11orf65)
ENST00000524792.5:n.4808A>G (ATM)
ENST00000525178.5:n.81A>G (ATM)
ENST00000525729.5:c.641-38216T>C (C11orf65)	ENSP00000433395.1:n.641-38216T>C
ENST00000526725.1:n.272-6923T>C (C11orf65)
ENST00000527531.5:c.*1196+7628T>C (C11orf65)	ENSP00000431706.1:n.*1196+7628T>C
ENST00000615746.4:c.*1196+7628T>C (C11orf65)	ENSP00000483537.1:n.*1196+7628T>C
NM_000051.3:c.8593A>G , LRG_135t1:c.8593A>G (ATM)	NP_000042.3:p.Ile2865Val
XM_005271414.3:c.788-11995T>C (C11orf65)	XP_005271471.1:n.788-11995T>C
XM_005271415.3:c.732-11995T>C (C11orf65)	XP_005271472.1:n.732-11995T>C
XM_005271561.3:c.8593A>G (ATM)	XP_005271618.2:p.Ile2865Val
XM_005271562.3:c.8593A>G (ATM)	XP_005271619.2:p.Ile2865Val
XM_006718843.2:c.8593A>G (ATM)	XP_006718906.1:p.Ile2865Val
XM_006718845.1:c.4549A>G (ATM)	XP_006718908.1:p.Ile1517Val
XM_011542640.1:c.788-6923T>C (C11orf65)	XP_011540942.1:n.788-6923T>C
XM_011542643.1:c.732-6923T>C (C11orf65)	XP_011540945.1:n.732-6923T>C
XM_011542840.1:c.8593A>G (ATM)	XP_011541142.1:p.Ile2865Val
XM_011542841.1:c.8593A>G (ATM)	XP_011541143.1:p.Ile2865Val
XM_011542842.1:c.8428A>G (ATM)	XP_011541144.1:p.Ile2810Val
XM_011542843.1:c.8593A>G (ATM)	XP_011541145.1:p.Ile2865Val
XM_011542844.1:c.7549A>G (ATM)	XP_011541146.1:p.Ile2517Val
XM_011542845.1:c.7285A>G (ATM)	XP_011541147.1:p.Ile2429Val
XM_011542847.1:c.3664A>G (ATM)	XP_011541149.1:p.Ile1222Val
NM_001330368.1:c.641-38216T>C (C11orf65)	NP_001317297.1:n.641-38216T>C
NM_001351110.1:c.695-11995T>C (C11orf65)	NP_001338039.1:n.695-11995T>C
NM_001351834.1:c.8593A>G (ATM)	NP_001338763.1:p.Ile2865Val
NR_147053.2:n.2301+7628T>C (C11orf65)
XM_005271414.4:c.788-11995T>C (C11orf65)	XP_005271471.1:n.788-11995T>C
XM_005271415.4:c.732-11995T>C (C11orf65)	XP_005271472.1:n.732-11995T>C
XM_005271562.5:c.8593A>G (ATM)	XP_005271619.2:p.Ile2865Val
XM_006718843.4:c.8593A>G (ATM)	XP_006718906.1:p.Ile2865Val
XM_006718845.2:c.4549A>G (ATM)	XP_006718908.1:p.Ile1517Val
XM_011542640.2:c.788-6923T>C (C11orf65)	XP_011540942.1:n.788-6923T>C
XM_011542643.2:c.732-6923T>C (C11orf65)	XP_011540945.1:n.732-6923T>C
XM_011542840.3:c.8593A>G (ATM)	XP_011541142.1:p.Ile2865Val
XM_011542842.3:c.8428A>G (ATM)	XP_011541144.1:p.Ile2810Val
XM_011542843.2:c.8593A>G (ATM)	XP_011541145.1:p.Ile2865Val
XM_011542844.3:c.7549A>G (ATM)	XP_011541146.1:p.Ile2517Val
XM_011542845.2:c.7285A>G (ATM)	XP_011541147.1:p.Ile2429Val
XM_017017247.1:c.904-6923T>C (C11orf65)	XP_016872736.1:n.904-6923T>C
XM_017017789.2:c.8593A>G (ATM)	XP_016873278.1:p.Ile2865Val
XM_017017790.2:c.8593A>G (ATM)	XP_016873279.1:p.Ile2865Val
NM_001330368.2:c.641-38216T>C (C11orf65)	NP_001317297.1:n.641-38216T>C
NM_001351110.2:c.695-11995T>C (C11orf65)	NP_001338039.1:n.695-11995T>C
NM_001351834.2:c.8593A>G (ATM)	NP_001338763.1:p.Ile2865Val
NM_000051.4:c.8593A>G (ATM) MANE Select	NP_000042.3:p.Ile2865Val
NR_147053.3:n.2299+7628T>C (C11orf65)