Canonical Allele Identifier: CA6266366

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2691918
• ClinVar RCV Id: RCV003494115
• dbSNP Id: rs766142982
• ExAC: 11:108216443 ATAAT / A
• gnomAD v2: 11-108216443-ATAAT-A
• gnomAD v3: 11-108345716-ATAAT-A
• gnomAD v4: 11-108345716-ATAAT-A
• MyVariant Identifiers: chr11:g.108216444_108216447del (hg19) ; chr11:g.108345717_108345720del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108345719_108345722del , CM000673.2:g.108345719_108345722del	GRCh38
NC_000011.9:g.108216446_108216449del , CM000673.1:g.108216446_108216449del	GRCh37
NC_000011.8:g.107721656_107721659del	NCBI36
NG_009830.1:g.127888_127891del , LRG_135:g.127888_127891del
NG_054724.1:g.129113_129116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8419-24_8419-21del (ATM)	ENSP00000388058.2:n.8419-24_8419-21del
ENST00000713593.1:c.*7890-24_*7890-21del (ATM)	ENSP00000518889.1:n.*7890-24_*7890-21del
ENST00000278616.9:c.8419-24_8419-21del (ATM)	ENSP00000278616.4:n.8419-24_8419-21del
ENST00000638786.2:n.1117-24_1117-21del (ATM)
ENST00000682286.1:n.3176-24_3176-21del (ATM)
ENST00000682302.1:n.2837-24_2837-21del (ATM)
ENST00000683174.1:n.9903-24_9903-21del (ATM)
ENST00000683524.1:n.3643-24_3643-21del (ATM)
ENST00000684152.1:n.3835-24_3835-21del (ATM)
ENST00000684180.1:n.893-24_893-21del (ATM)
ENST00000684447.1:n.4912-24_4912-21del (ATM)
ENST00000527805.6:c.*3483-24_*3483-21del (ATM)	ENSP00000435747.2:n.*3483-24_*3483-21del
ENST00000675595.1:c.*3554-24_*3554-21del (ATM)	ENSP00000502563.1:n.*3554-24_*3554-21del
ENST00000675843.1:c.8419-24_8419-21del (ATM) MANE Select	ENSP00000501606.1:n.8419-24_8419-21del
ENST00000278616.8:c.8419-24_8419-21del (ATM)	ENSP00000278616.4:n.8419-24_8419-21del
ENST00000452508.6:c.8419-24_8419-21del (ATM)	ENSP00000388058.2:n.8419-24_8419-21del
ENST00000524755.5:c.227-10428_227-10425del (C11orf65)
ENST00000524792.5:n.4634-24_4634-21del (ATM)
ENST00000525729.5:c.641-36649_641-36646del (C11orf65)	ENSP00000433395.1:n.641-36649_641-36646del
ENST00000526725.1:n.272-5356_272-5353del (C11orf65)
ENST00000527531.5:c.*1196+9195_*1196+9198del (C11orf65)	ENSP00000431706.1:n.*1196+9195_*1196+9198del
ENST00000615746.4:c.*1196+9195_*1196+9198del (C11orf65)	ENSP00000483537.1:n.*1196+9195_*1196+9198del
NM_000051.3:c.8419-24_8419-21del , LRG_135t1:c.8419-24_8419-21del (ATM)	NP_000042.3:n.8419-24_8419-21del
XM_005271414.3:c.788-10428_788-10425del (C11orf65)	XP_005271471.1:n.788-10428_788-10425del
XM_005271415.3:c.732-10428_732-10425del (C11orf65)	XP_005271472.1:n.732-10428_732-10425del
XM_005271561.3:c.8419-24_8419-21del (ATM)	XP_005271618.2:n.8419-24_8419-21del
XM_005271562.3:c.8419-24_8419-21del (ATM)	XP_005271619.2:n.8419-24_8419-21del
XM_006718843.2:c.8419-24_8419-21del (ATM)	XP_006718906.1:n.8419-24_8419-21del
XM_006718845.1:c.4375-24_4375-21del (ATM)	XP_006718908.1:n.4375-24_4375-21del
XM_011542640.1:c.788-5356_788-5353del (C11orf65)	XP_011540942.1:n.788-5356_788-5353del
XM_011542643.1:c.732-5356_732-5353del (C11orf65)	XP_011540945.1:n.732-5356_732-5353del
XM_011542840.1:c.8419-24_8419-21del (ATM)	XP_011541142.1:n.8419-24_8419-21del
XM_011542841.1:c.8419-24_8419-21del (ATM)	XP_011541143.1:n.8419-24_8419-21del
XM_011542842.1:c.8254-24_8254-21del (ATM)	XP_011541144.1:n.8254-24_8254-21del
XM_011542843.1:c.8419-24_8419-21del (ATM)	XP_011541145.1:n.8419-24_8419-21del
XM_011542844.1:c.7375-24_7375-21del (ATM)	XP_011541146.1:n.7375-24_7375-21del
XM_011542845.1:c.7111-24_7111-21del (ATM)	XP_011541147.1:n.7111-24_7111-21del
XM_011542847.1:c.3490-24_3490-21del (ATM)	XP_011541149.1:n.3490-24_3490-21del
NM_001330368.1:c.641-36649_641-36646del (C11orf65)	NP_001317297.1:n.641-36649_641-36646del
NM_001351110.1:c.695-10428_695-10425del (C11orf65)	NP_001338039.1:n.695-10428_695-10425del
NM_001351834.1:c.8419-24_8419-21del (ATM)	NP_001338763.1:n.8419-24_8419-21del
NR_147053.2:n.2301+9195_2301+9198del (C11orf65)
XM_005271414.4:c.788-10428_788-10425del (C11orf65)	XP_005271471.1:n.788-10428_788-10425del
XM_005271415.4:c.732-10428_732-10425del (C11orf65)	XP_005271472.1:n.732-10428_732-10425del
XM_005271562.5:c.8419-24_8419-21del (ATM)	XP_005271619.2:n.8419-24_8419-21del
XM_006718843.4:c.8419-24_8419-21del (ATM)	XP_006718906.1:n.8419-24_8419-21del
XM_006718845.2:c.4375-24_4375-21del (ATM)	XP_006718908.1:n.4375-24_4375-21del
XM_011542640.2:c.788-5356_788-5353del (C11orf65)	XP_011540942.1:n.788-5356_788-5353del
XM_011542643.2:c.732-5356_732-5353del (C11orf65)	XP_011540945.1:n.732-5356_732-5353del
XM_011542840.3:c.8419-24_8419-21del (ATM)	XP_011541142.1:n.8419-24_8419-21del
XM_011542842.3:c.8254-24_8254-21del (ATM)	XP_011541144.1:n.8254-24_8254-21del
XM_011542843.2:c.8419-24_8419-21del (ATM)	XP_011541145.1:n.8419-24_8419-21del
XM_011542844.3:c.7375-24_7375-21del (ATM)	XP_011541146.1:n.7375-24_7375-21del
XM_011542845.2:c.7111-24_7111-21del (ATM)	XP_011541147.1:n.7111-24_7111-21del
XM_017017247.1:c.904-5356_904-5353del (C11orf65)	XP_016872736.1:n.904-5356_904-5353del
XM_017017789.2:c.8419-24_8419-21del (ATM)	XP_016873278.1:n.8419-24_8419-21del
XM_017017790.2:c.8419-24_8419-21del (ATM)	XP_016873279.1:n.8419-24_8419-21del
NM_001330368.2:c.641-36649_641-36646del (C11orf65)	NP_001317297.1:n.641-36649_641-36646del
NM_001351110.2:c.695-10428_695-10425del (C11orf65)	NP_001338039.1:n.695-10428_695-10425del
NM_001351834.2:c.8419-24_8419-21del (ATM)	NP_001338763.1:n.8419-24_8419-21del
NM_000051.4:c.8419-24_8419-21del (ATM) MANE Select	NP_000042.3:n.8419-24_8419-21del
NR_147053.3:n.2299+9195_2299+9198del (C11orf65)