Canonical Allele Identifier: CA10582843

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 236760
• ClinVar RCV Id: RCV000234351 ; RCV000235684 ; RCV001025799 ; RCV001357898 ; RCV003483583 ; RCV003463632
• dbSNP Id: rs878853535
• gnomAD v4: 11-108326163-CAG-C
• MyVariant Identifiers: chr11:g.108196893_108196894del (hg19) ; chr11:g.108326166_108326167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326166_108326167del , CM000673.2:g.108326166_108326167del	GRCh38
NC_000011.9:g.108196893_108196894del , CM000673.1:g.108196893_108196894del	GRCh37
NC_000011.8:g.107702103_107702104del	NCBI36
NG_009830.1:g.108335_108336del , LRG_135:g.108335_108336del
NG_054724.1:g.148668_148669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6916_6917del (ATM)	ENSP00000388058.2:p.Leu2307CysfsTer?
ENST00000713593.1:c.*6387_*6388del (ATM)	ENSP00000518889.1:n.*6387_*6388del
ENST00000278616.9:c.6916_6917del (ATM)	ENSP00000278616.4:p.Leu2307CysfsTer?
ENST00000525056.2:n.1335_1336del (ATM)
ENST00000682286.1:n.1673_1674del (ATM)
ENST00000682302.1:n.1334_1335del (ATM)
ENST00000683174.1:n.8400_8401del (ATM)
ENST00000683524.1:n.2140_2141del (ATM)
ENST00000684152.1:n.2630_2631del (ATM)
ENST00000527805.6:c.*1980_*1981del (ATM)	ENSP00000435747.2:n.*1980_*1981del
ENST00000675595.1:c.*2051_*2052del (ATM)	ENSP00000502563.1:n.*2051_*2052del
ENST00000675843.1:c.6916_6917del (ATM) MANE Select	ENSP00000501606.1:p.Leu2307CysfsTer?
ENST00000278616.8:c.6916_6917del (ATM)	ENSP00000278616.4:p.Leu2307CysfsTer?
ENST00000452508.6:c.6916_6917del (ATM)	ENSP00000388058.2:p.Leu2307CysfsTer?
ENST00000524792.5:n.3131_3132del (ATM)
ENST00000525729.5:c.641-17094_641-17093del (C11orf65)	ENSP00000433395.1:n.641-17094_641-17093del
ENST00000533690.5:n.2320_2321del (ATM)
NM_000051.3:c.6916_6917del , LRG_135t1:c.6916_6917del (ATM)	NP_000042.3:p.Leu2307CysfsTer?
XM_005271561.3:c.6916_6917del (ATM)	XP_005271618.2:p.Leu2307CysfsTer?
XM_005271562.3:c.6916_6917del (ATM)	XP_005271619.2:p.Leu2307CysfsTer?
XM_006718843.2:c.6916_6917del (ATM)	XP_006718906.1:p.Leu2307CysfsTer?
XM_006718845.1:c.2872_2873del (ATM)	XP_006718908.1:p.Leu959CysfsTer?
XM_011542840.1:c.6916_6917del (ATM)	XP_011541142.1:p.Leu2307CysfsTer?
XM_011542841.1:c.6916_6917del (ATM)	XP_011541143.1:p.Leu2307CysfsTer?
XM_011542842.1:c.6751_6752del (ATM)	XP_011541144.1:p.Leu2252CysfsTer?
XM_011542843.1:c.6916_6917del (ATM)	XP_011541145.1:p.Leu2307CysfsTer?
XM_011542844.1:c.5872_5873del (ATM)	XP_011541146.1:p.Leu1959CysfsTer?
XM_011542845.1:c.5608_5609del (ATM)	XP_011541147.1:p.Leu1871CysfsTer?
XM_011542847.1:c.1987_1988del (ATM)	XP_011541149.1:p.Leu664CysfsTer?
NM_001330368.1:c.641-17094_641-17093del (C11orf65)	NP_001317297.1:n.641-17094_641-17093del
NM_001351110.1:c.*38+9055_*38+9056del (C11orf65)	NP_001338039.1:n.*38+9055_*38+9056del
NM_001351834.1:c.6916_6917del (ATM)	NP_001338763.1:p.Leu2307CysfsTer?
XM_005271562.5:c.6916_6917del (ATM)	XP_005271619.2:p.Leu2307CysfsTer?
XM_006718843.4:c.6916_6917del (ATM)	XP_006718906.1:p.Leu2307CysfsTer?
XM_006718845.2:c.2872_2873del (ATM)	XP_006718908.1:p.Leu959CysfsTer?
XM_011542840.3:c.6916_6917del (ATM)	XP_011541142.1:p.Leu2307CysfsTer?
XM_011542842.3:c.6751_6752del (ATM)	XP_011541144.1:p.Leu2252CysfsTer?
XM_011542843.2:c.6916_6917del (ATM)	XP_011541145.1:p.Leu2307CysfsTer?
XM_011542844.3:c.5872_5873del (ATM)	XP_011541146.1:p.Leu1959CysfsTer?
XM_011542845.2:c.5608_5609del (ATM)	XP_011541147.1:p.Leu1871CysfsTer?
XM_017017789.2:c.6916_6917del (ATM)	XP_016873278.1:p.Leu2307CysfsTer?
XM_017017790.2:c.6916_6917del (ATM)	XP_016873279.1:p.Leu2307CysfsTer?
NM_001330368.2:c.641-17094_641-17093del (C11orf65)	NP_001317297.1:n.641-17094_641-17093del
NM_001351110.2:c.*38+9055_*38+9056del (C11orf65)	NP_001338039.1:n.*38+9055_*38+9056del
NM_001351834.2:c.6916_6917del (ATM)	NP_001338763.1:p.Leu2307CysfsTer?
NM_000051.4:c.6916_6917del (ATM) MANE Select	NP_000042.3:p.Leu2307CysfsTer?