Canonical Allele Identifier: CA2695215508

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2910290
• ClinVar RCV Id: RCV003607087

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108330336_108330338del , CM000673.2:g.108330336_108330338del	GRCh38
NC_000011.9:g.108201063_108201065del , CM000673.1:g.108201063_108201065del	GRCh37
NC_000011.8:g.107706273_107706275del	NCBI36
NG_009830.1:g.112505_112507del , LRG_135:g.112505_112507del
NG_054724.1:g.144496_144498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7430_7432del (ATM)	ENSP00000388058.2:p.Gly2477del
ENST00000713593.1:c.*6901_*6903del (ATM)	ENSP00000518889.1:n.*6901_*6903del
ENST00000278616.9:c.7430_7432del (ATM)	ENSP00000278616.4:p.Gly2477del
ENST00000525056.2:n.1849_1851del (ATM)
ENST00000525537.3:n.387_389del (ATM)
ENST00000638786.2:n.267_269del (ATM)
ENST00000682286.1:n.2187_2189del (ATM)
ENST00000682302.1:n.1848_1850del (ATM)
ENST00000683174.1:n.8914_8916del (ATM)
ENST00000683524.1:n.2654_2656del (ATM)
ENST00000684152.1:n.3144_3146del (ATM)
ENST00000684447.1:n.1893_1895del (ATM)
ENST00000527805.6:c.*2494_*2496del (ATM)	ENSP00000435747.2:n.*2494_*2496del
ENST00000675595.1:c.*2565_*2567del (ATM)	ENSP00000502563.1:n.*2565_*2567del
ENST00000675843.1:c.7430_7432del (ATM) MANE Select	ENSP00000501606.1:p.Gly2477del
ENST00000278616.8:c.7430_7432del (ATM)	ENSP00000278616.4:p.Gly2477del
ENST00000452508.6:c.7430_7432del (ATM)	ENSP00000388058.2:p.Gly2477del
ENST00000524792.5:n.3645_3647del (ATM)
ENST00000525729.5:c.641-21266_641-21264del (C11orf65)	ENSP00000433395.1:n.641-21266_641-21264del
ENST00000533690.5:n.2834_2836del (ATM)
NM_000051.3:c.7430_7432del , LRG_135t1:c.7430_7432del (ATM)	NP_000042.3:p.Gly2477del
XM_005271561.3:c.7430_7432del (ATM)	XP_005271618.2:p.Gly2477del
XM_005271562.3:c.7430_7432del (ATM)	XP_005271619.2:p.Gly2477del
XM_006718843.2:c.7430_7432del (ATM)	XP_006718906.1:p.Gly2477del
XM_006718845.1:c.3386_3388del (ATM)	XP_006718908.1:p.Gly1129del
XM_011542840.1:c.7430_7432del (ATM)	XP_011541142.1:p.Gly2477del
XM_011542841.1:c.7430_7432del (ATM)	XP_011541143.1:p.Gly2477del
XM_011542842.1:c.7265_7267del (ATM)	XP_011541144.1:p.Gly2422del
XM_011542843.1:c.7430_7432del (ATM)	XP_011541145.1:p.Gly2477del
XM_011542844.1:c.6386_6388del (ATM)	XP_011541146.1:p.Gly2129del
XM_011542845.1:c.6122_6124del (ATM)	XP_011541147.1:p.Gly2041del
XM_011542847.1:c.2501_2503del (ATM)	XP_011541149.1:p.Gly834del
NM_001330368.1:c.641-21266_641-21264del (C11orf65)	NP_001317297.1:n.641-21266_641-21264del
NM_001351110.1:c.*38+4883_*38+4885del (C11orf65)	NP_001338039.1:n.*38+4883_*38+4885del
NM_001351834.1:c.7430_7432del (ATM)	NP_001338763.1:p.Gly2477del
XM_005271562.5:c.7430_7432del (ATM)	XP_005271619.2:p.Gly2477del
XM_006718843.4:c.7430_7432del (ATM)	XP_006718906.1:p.Gly2477del
XM_006718845.2:c.3386_3388del (ATM)	XP_006718908.1:p.Gly1129del
XM_011542840.3:c.7430_7432del (ATM)	XP_011541142.1:p.Gly2477del
XM_011542842.3:c.7265_7267del (ATM)	XP_011541144.1:p.Gly2422del
XM_011542843.2:c.7430_7432del (ATM)	XP_011541145.1:p.Gly2477del
XM_011542844.3:c.6386_6388del (ATM)	XP_011541146.1:p.Gly2129del
XM_011542845.2:c.6122_6124del (ATM)	XP_011541147.1:p.Gly2041del
XM_017017789.2:c.7430_7432del (ATM)	XP_016873278.1:p.Gly2477del
XM_017017790.2:c.7430_7432del (ATM)	XP_016873279.1:p.Gly2477del
NM_001330368.2:c.641-21266_641-21264del (C11orf65)	NP_001317297.1:n.641-21266_641-21264del
NM_001351110.2:c.*38+4883_*38+4885del (C11orf65)	NP_001338039.1:n.*38+4883_*38+4885del
NM_001351834.2:c.7430_7432del (ATM)	NP_001338763.1:p.Gly2477del
NM_000051.4:c.7430_7432del (ATM) MANE Select	NP_000042.3:p.Gly2477del