Canonical Allele Identifier: CA658822485

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 545794
• ClinVar RCV Id: RCV000657337
• dbSNP Id: rs1555142816
• gnomAD v4: 11-108353785-C-CA
• MyVariant Identifiers: chr11:g.108224516dup (hg19) ; chr11:g.108353789dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353789dup , CM000673.2:g.108353789dup	GRCh38
NC_000011.9:g.108224516dup , CM000673.1:g.108224516dup	GRCh37
NC_000011.8:g.107729726dup	NCBI36
NG_009830.1:g.135958dup , LRG_135:g.135958dup
NG_054724.1:g.121047dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8695dup (ATM)	ENSP00000388058.2:p.Ile2899AsnfsTer6
ENST00000713593.1:c.*8166dup (ATM)	ENSP00000518889.1:n.*8166dup
ENST00000278616.9:c.8695dup (ATM)	ENSP00000278616.4:p.Ile2899AsnfsTer6
ENST00000638786.2:n.1393dup (ATM)
ENST00000682286.1:n.3452dup (ATM)
ENST00000682302.1:n.3113dup (ATM)
ENST00000683174.1:n.10179dup (ATM)
ENST00000683524.1:n.3919dup (ATM)
ENST00000684152.1:n.4111dup (ATM)
ENST00000684180.1:n.1169dup (ATM)
ENST00000684447.1:n.5188dup (ATM)
ENST00000527805.6:c.*3759dup (ATM)	ENSP00000435747.2:n.*3759dup
ENST00000675595.1:c.*3830dup (ATM)	ENSP00000502563.1:n.*3830dup
ENST00000675843.1:c.8695dup (ATM) MANE Select	ENSP00000501606.1:p.Ile2899AsnfsTer6
ENST00000278616.8:c.8695dup (ATM)	ENSP00000278616.4:p.Ile2899AsnfsTer6
ENST00000452508.6:c.8695dup (ATM)	ENSP00000388058.2:p.Ile2899AsnfsTer6
ENST00000524755.5:c.227-18494dup (C11orf65)
ENST00000524792.5:n.4910dup (ATM)
ENST00000525178.5:n.183dup (ATM)
ENST00000525729.5:c.640+32134dup (C11orf65)	ENSP00000433395.1:n.640+32134dup
ENST00000526725.1:n.272-13422dup (C11orf65)
ENST00000527181.1:n.34dup (ATM)
ENST00000527531.5:c.*1196+1129dup (C11orf65)	ENSP00000431706.1:n.*1196+1129dup
ENST00000615746.4:c.*1196+1129dup (C11orf65)	ENSP00000483537.1:n.*1196+1129dup
NM_000051.3:c.8695dup , LRG_135t1:c.8695dup (ATM)	NP_000042.3:p.Ile2899AsnfsTer6
XM_005271414.3:c.788-18494dup (C11orf65)	XP_005271471.1:n.788-18494dup
XM_005271415.3:c.732-18494dup (C11orf65)	XP_005271472.1:n.732-18494dup
XM_005271561.3:c.8695dup (ATM)	XP_005271618.2:p.Ile2899AsnfsTer6
XM_005271562.3:c.8695dup (ATM)	XP_005271619.2:p.Ile2899AsnfsTer6
XM_006718843.2:c.8695dup (ATM)	XP_006718906.1:p.Ile2899AsnfsTer6
XM_006718845.1:c.4651dup (ATM)	XP_006718908.1:p.Ile1551AsnfsTer6
XM_011542640.1:c.788-13422dup (C11orf65)	XP_011540942.1:n.788-13422dup
XM_011542642.1:c.732-4713dup (C11orf65)	XP_011540944.1:n.732-4713dup
XM_011542643.1:c.732-13422dup (C11orf65)	XP_011540945.1:n.732-13422dup
XM_011542840.1:c.8695dup (ATM)	XP_011541142.1:p.Ile2899AsnfsTer6
XM_011542841.1:c.8695dup (ATM)	XP_011541143.1:p.Ile2899AsnfsTer6
XM_011542842.1:c.8530dup (ATM)	XP_011541144.1:p.Ile2844AsnfsTer6
XM_011542844.1:c.7651dup (ATM)	XP_011541146.1:p.Ile2551AsnfsTer6
XM_011542845.1:c.7387dup (ATM)	XP_011541147.1:p.Ile2463AsnfsTer6
XM_011542847.1:c.3766dup (ATM)	XP_011541149.1:p.Ile1256AsnfsTer6
NM_001330368.1:c.640+32134dup (C11orf65)	NP_001317297.1:n.640+32134dup
NM_001351110.1:c.695-18494dup (C11orf65)	NP_001338039.1:n.695-18494dup
NM_001351834.1:c.8695dup (ATM)	NP_001338763.1:p.Ile2899AsnfsTer6
NR_147053.2:n.2301+1129dup (C11orf65)
XM_005271414.4:c.788-18494dup (C11orf65)	XP_005271471.1:n.788-18494dup
XM_005271415.4:c.732-18494dup (C11orf65)	XP_005271472.1:n.732-18494dup
XM_005271562.5:c.8695dup (ATM)	XP_005271619.2:p.Ile2899AsnfsTer6
XM_006718843.4:c.8695dup (ATM)	XP_006718906.1:p.Ile2899AsnfsTer6
XM_006718845.2:c.4651dup (ATM)	XP_006718908.1:p.Ile1551AsnfsTer6
XM_011542640.2:c.788-13422dup (C11orf65)	XP_011540942.1:n.788-13422dup
XM_011542643.2:c.732-13422dup (C11orf65)	XP_011540945.1:n.732-13422dup
XM_011542840.3:c.8695dup (ATM)	XP_011541142.1:p.Ile2899AsnfsTer6
XM_011542842.3:c.8530dup (ATM)	XP_011541144.1:p.Ile2844AsnfsTer6
XM_011542844.3:c.7651dup (ATM)	XP_011541146.1:p.Ile2551AsnfsTer6
XM_011542845.2:c.7387dup (ATM)	XP_011541147.1:p.Ile2463AsnfsTer6
XM_017017247.1:c.904-13422dup (C11orf65)	XP_016872736.1:n.904-13422dup
XM_017017789.2:c.8695dup (ATM)	XP_016873278.1:p.Ile2899AsnfsTer6
XM_017017790.2:c.8695dup (ATM)	XP_016873279.1:p.Ile2899AsnfsTer6
NM_001330368.2:c.640+32134dup (C11orf65)	NP_001317297.1:n.640+32134dup
NM_001351110.2:c.695-18494dup (C11orf65)	NP_001338039.1:n.695-18494dup
NM_001351834.2:c.8695dup (ATM)	NP_001338763.1:p.Ile2899AsnfsTer6
NM_000051.4:c.8695dup (ATM) MANE Select	NP_000042.3:p.Ile2899AsnfsTer6
NR_147053.3:n.2299+1129dup (C11orf65)