Canonical Allele Identifier: CA891842651

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 570427
• ClinVar RCV Id: RCV000691297
• dbSNP Id: rs1565511585
• MyVariant Identifiers: chr11:g.108192130dup (hg19) ; chr11:g.108321403dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108321403dup , CM000673.2:g.108321403dup	GRCh38
NC_000011.9:g.108192130dup , CM000673.1:g.108192130dup	GRCh37
NC_000011.8:g.107697340dup	NCBI36
NG_009830.1:g.103572dup , LRG_135:g.103572dup
NG_054724.1:g.153431dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6555dup (ATM)	ENSP00000388058.2:p.Gly2186TrpfsTer11
ENST00000713593.1:c.*6026dup (ATM)	ENSP00000518889.1:n.*6026dup
ENST00000278616.9:c.6555dup (ATM)	ENSP00000278616.4:p.Gly2186TrpfsTer11
ENST00000525056.2:n.974dup (ATM)
ENST00000682286.1:n.1312dup (ATM)
ENST00000682302.1:n.973dup (ATM)
ENST00000683174.1:n.8039dup (ATM)
ENST00000683524.1:n.1779dup (ATM)
ENST00000684152.1:n.2269dup (ATM)
ENST00000527805.6:c.*1619dup (ATM)	ENSP00000435747.2:n.*1619dup
ENST00000675595.1:c.*1690dup (ATM)	ENSP00000502563.1:n.*1690dup
ENST00000675843.1:c.6555dup (ATM) MANE Select	ENSP00000501606.1:p.Gly2186TrpfsTer11
ENST00000278616.8:c.6555dup (ATM)	ENSP00000278616.4:p.Gly2186TrpfsTer11
ENST00000452508.6:c.6555dup (ATM)	ENSP00000388058.2:p.Gly2186TrpfsTer11
ENST00000524792.5:n.2770dup (ATM)
ENST00000525729.5:c.641-12331dup (C11orf65)	ENSP00000433395.1:n.641-12331dup
ENST00000533690.5:n.1959dup (ATM)
NM_000051.3:c.6555dup , LRG_135t1:c.6555dup (ATM)	NP_000042.3:p.Gly2186TrpfsTer11
XM_005271561.3:c.6555dup (ATM)	XP_005271618.2:p.Gly2186TrpfsTer11
XM_005271562.3:c.6555dup (ATM)	XP_005271619.2:p.Gly2186TrpfsTer11
XM_006718843.2:c.6555dup (ATM)	XP_006718906.1:p.Gly2186TrpfsTer11
XM_006718845.1:c.2511dup (ATM)	XP_006718908.1:p.Gly838TrpfsTer11
XM_011542840.1:c.6555dup (ATM)	XP_011541142.1:p.Gly2186TrpfsTer11
XM_011542841.1:c.6555dup (ATM)	XP_011541143.1:p.Gly2186TrpfsTer11
XM_011542842.1:c.6390dup (ATM)	XP_011541144.1:p.Gly2131TrpfsTer11
XM_011542843.1:c.6555dup (ATM)	XP_011541145.1:p.Gly2186TrpfsTer11
XM_011542844.1:c.5511dup (ATM)	XP_011541146.1:p.Gly1838TrpfsTer11
XM_011542845.1:c.5247dup (ATM)	XP_011541147.1:p.Gly1750TrpfsTer11
XM_011542847.1:c.1626dup (ATM)	XP_011541149.1:p.Gly543TrpfsTer11
NM_001330368.1:c.641-12331dup (C11orf65)	NP_001317297.1:n.641-12331dup
NM_001351110.1:c.*39-12331dup (C11orf65)	NP_001338039.1:n.*39-12331dup
NM_001351834.1:c.6555dup (ATM)	NP_001338763.1:p.Gly2186TrpfsTer11
XM_005271562.5:c.6555dup (ATM)	XP_005271619.2:p.Gly2186TrpfsTer11
XM_006718843.4:c.6555dup (ATM)	XP_006718906.1:p.Gly2186TrpfsTer11
XM_006718845.2:c.2511dup (ATM)	XP_006718908.1:p.Gly838TrpfsTer11
XM_011542840.3:c.6555dup (ATM)	XP_011541142.1:p.Gly2186TrpfsTer11
XM_011542842.3:c.6390dup (ATM)	XP_011541144.1:p.Gly2131TrpfsTer11
XM_011542843.2:c.6555dup (ATM)	XP_011541145.1:p.Gly2186TrpfsTer11
XM_011542844.3:c.5511dup (ATM)	XP_011541146.1:p.Gly1838TrpfsTer11
XM_011542845.2:c.5247dup (ATM)	XP_011541147.1:p.Gly1750TrpfsTer11
XM_017017789.2:c.6555dup (ATM)	XP_016873278.1:p.Gly2186TrpfsTer11
XM_017017790.2:c.6555dup (ATM)	XP_016873279.1:p.Gly2186TrpfsTer11
NM_001330368.2:c.641-12331dup (C11orf65)	NP_001317297.1:n.641-12331dup
NM_001351110.2:c.*39-12331dup (C11orf65)	NP_001338039.1:n.*39-12331dup
NM_001351834.2:c.6555dup (ATM)	NP_001338763.1:p.Gly2186TrpfsTer11
NM_000051.4:c.6555dup (ATM) MANE Select	NP_000042.3:p.Gly2186TrpfsTer11