Canonical Allele Identifier: CA16619247

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 419265
• ClinVar RCV Id: RCV000480590 ; RCV000627965 ; RCV001027217 ; RCV003155945 ; RCV003168944 ; RCV003492069
• dbSNP Id: rs1060501695
• gnomAD v4: 11-108335098-C-T
• COSMIC: COSM5575335 ; COSM5575336
• MyVariant Identifiers: chr11:g.108205825C>T (hg19) ; chr11:g.108335098C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335098C>T , CM000673.2:g.108335098C>T	GRCh38
NC_000011.9:g.108205825C>T , CM000673.1:g.108205825C>T	GRCh37
NC_000011.8:g.107711035C>T	NCBI36
NG_009830.1:g.117267C>T , LRG_135:g.117267C>T
NG_054724.1:g.139735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8140C>T (ATM)	ENSP00000388058.2:p.Gln2714Ter
ENST00000713593.1:c.*7611C>T (ATM)	ENSP00000518889.1:n.*7611C>T
ENST00000278616.9:c.8140C>T (ATM)	ENSP00000278616.4:p.Gln2714Ter
ENST00000525056.2:n.2559C>T (ATM)
ENST00000638786.2:n.838C>T (ATM)
ENST00000682286.1:n.2897C>T (ATM)
ENST00000682302.1:n.2558C>T (ATM)
ENST00000683174.1:n.9624C>T (ATM)
ENST00000683524.1:n.3364C>T (ATM)
ENST00000684152.1:n.3556C>T (ATM)
ENST00000684180.1:n.614C>T (ATM)
ENST00000684447.1:n.4633C>T (ATM)
ENST00000527805.6:c.*3204C>T (ATM)	ENSP00000435747.2:n.*3204C>T
ENST00000675595.1:c.*3275C>T (ATM)	ENSP00000502563.1:n.*3275C>T
ENST00000675843.1:c.8140C>T (ATM) MANE Select	ENSP00000501606.1:p.Gln2714Ter
ENST00000278616.8:c.8140C>T (ATM)	ENSP00000278616.4:p.Gln2714Ter
ENST00000452508.6:c.8140C>T (ATM)	ENSP00000388058.2:p.Gln2714Ter
ENST00000524755.5:c.299+122G>A (C11orf65)
ENST00000524792.5:n.4355C>T (ATM)
ENST00000525056.1:n.337C>T (ATM)
ENST00000525729.5:c.641-26027G>A (C11orf65)	ENSP00000433395.1:n.641-26027G>A
ENST00000527531.5:c.*1269+122G>A (C11orf65)	ENSP00000431706.1:n.*1269+122G>A
ENST00000533979.5:n.352C>T (ATM)
ENST00000615746.4:c.*1269+122G>A (C11orf65)	ENSP00000483537.1:n.*1269+122G>A
NM_000051.3:c.8140C>T , LRG_135t1:c.8140C>T (ATM)	NP_000042.3:p.Gln2714Ter
XM_005271414.3:c.*38+122G>A (C11orf65)	XP_005271471.1:n.*38+122G>A
XM_005271415.3:c.804+122G>A (C11orf65)	XP_005271472.1:n.804+122G>A
XM_005271561.3:c.8140C>T (ATM)	XP_005271618.2:p.Gln2714Ter
XM_005271562.3:c.8140C>T (ATM)	XP_005271619.2:p.Gln2714Ter
XM_006718843.2:c.8140C>T (ATM)	XP_006718906.1:p.Gln2714Ter
XM_006718845.1:c.4096C>T (ATM)	XP_006718908.1:p.Gln1366Ter
XM_011542840.1:c.8140C>T (ATM)	XP_011541142.1:p.Gln2714Ter
XM_011542841.1:c.8140C>T (ATM)	XP_011541143.1:p.Gln2714Ter
XM_011542842.1:c.7975C>T (ATM)	XP_011541144.1:p.Gln2659Ter
XM_011542843.1:c.8140C>T (ATM)	XP_011541145.1:p.Gln2714Ter
XM_011542844.1:c.7096C>T (ATM)	XP_011541146.1:p.Gln2366Ter
XM_011542845.1:c.6832C>T (ATM)	XP_011541147.1:p.Gln2278Ter
XM_011542847.1:c.3211C>T (ATM)	XP_011541149.1:p.Gln1071Ter
NM_001330368.1:c.641-26027G>A (C11orf65)	NP_001317297.1:n.641-26027G>A
NM_001351110.1:c.*38+122G>A (C11orf65)	NP_001338039.1:n.*38+122G>A
NM_001351834.1:c.8140C>T (ATM)	NP_001338763.1:p.Gln2714Ter
NR_147053.2:n.2374+122G>A (C11orf65)
XM_005271414.4:c.*38+122G>A (C11orf65)	XP_005271471.1:n.*38+122G>A
XM_005271415.4:c.804+122G>A (C11orf65)	XP_005271472.1:n.804+122G>A
XM_005271562.5:c.8140C>T (ATM)	XP_005271619.2:p.Gln2714Ter
XM_006718843.4:c.8140C>T (ATM)	XP_006718906.1:p.Gln2714Ter
XM_006718845.2:c.4096C>T (ATM)	XP_006718908.1:p.Gln1366Ter
XM_011542840.3:c.8140C>T (ATM)	XP_011541142.1:p.Gln2714Ter
XM_011542842.3:c.7975C>T (ATM)	XP_011541144.1:p.Gln2659Ter
XM_011542843.2:c.8140C>T (ATM)	XP_011541145.1:p.Gln2714Ter
XM_011542844.3:c.7096C>T (ATM)	XP_011541146.1:p.Gln2366Ter
XM_011542845.2:c.6832C>T (ATM)	XP_011541147.1:p.Gln2278Ter
XM_017017789.2:c.8140C>T (ATM)	XP_016873278.1:p.Gln2714Ter
XM_017017790.2:c.8140C>T (ATM)	XP_016873279.1:p.Gln2714Ter
NM_001330368.2:c.641-26027G>A (C11orf65)	NP_001317297.1:n.641-26027G>A
NM_001351110.2:c.*38+122G>A (C11orf65)	NP_001338039.1:n.*38+122G>A
NM_001351834.2:c.8140C>T (ATM)	NP_001338763.1:p.Gln2714Ter
NM_000051.4:c.8140C>T (ATM) MANE Select	NP_000042.3:p.Gln2714Ter
NR_147053.3:n.2372+122G>A (C11orf65)