Canonical Allele Identifier: CA10584362

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 246356
• ClinVar RCV Id: RCV000236073
• dbSNP Id: rs879254220
• MyVariant Identifiers: chr11:g.108198464_108198466del (hg19) ; chr11:g.108327737_108327739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327737_108327739del , CM000673.2:g.108327737_108327739del	GRCh38
NC_000011.9:g.108198464_108198466del , CM000673.1:g.108198464_108198466del	GRCh37
NC_000011.8:g.107703674_107703676del	NCBI36
NG_009830.1:g.109906_109908del , LRG_135:g.109906_109908del
NG_054724.1:g.147098_147100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7068_7070del (ATM)	ENSP00000388058.2:p.Ile2356del
ENST00000713593.1:c.*6539_*6541del (ATM)	ENSP00000518889.1:n.*6539_*6541del
ENST00000278616.9:c.7068_7070del (ATM)	ENSP00000278616.4:p.Ile2356del
ENST00000525056.2:n.1487_1489del (ATM)
ENST00000525537.3:n.25_27del (ATM)
ENST00000682286.1:n.1825_1827del (ATM)
ENST00000682302.1:n.1486_1488del (ATM)
ENST00000683174.1:n.8552_8554del (ATM)
ENST00000683524.1:n.2292_2294del (ATM)
ENST00000684152.1:n.2782_2784del (ATM)
ENST00000684447.1:n.1531_1533del (ATM)
ENST00000527805.6:c.*2132_*2134del (ATM)	ENSP00000435747.2:n.*2132_*2134del
ENST00000675595.1:c.*2203_*2205del (ATM)	ENSP00000502563.1:n.*2203_*2205del
ENST00000675843.1:c.7068_7070del (ATM) MANE Select	ENSP00000501606.1:p.Ile2356del
ENST00000278616.8:c.7068_7070del (ATM)	ENSP00000278616.4:p.Ile2356del
ENST00000452508.6:c.7068_7070del (ATM)	ENSP00000388058.2:p.Ile2356del
ENST00000524792.5:n.3283_3285del (ATM)
ENST00000525537.2:n.344_346del (ATM)
ENST00000525729.5:c.641-18664_641-18662del (C11orf65)	ENSP00000433395.1:n.641-18664_641-18662del
ENST00000527389.2:n.93_95del (ATM)
ENST00000533690.5:n.2472_2474del (ATM)
NM_000051.3:c.7068_7070del , LRG_135t1:c.7068_7070del (ATM)	NP_000042.3:p.Ile2356del
XM_005271561.3:c.7068_7070del (ATM)	XP_005271618.2:p.Ile2356del
XM_005271562.3:c.7068_7070del (ATM)	XP_005271619.2:p.Ile2356del
XM_006718843.2:c.7068_7070del (ATM)	XP_006718906.1:p.Ile2356del
XM_006718845.1:c.3024_3026del (ATM)	XP_006718908.1:p.Ile1008del
XM_011542840.1:c.7068_7070del (ATM)	XP_011541142.1:p.Ile2356del
XM_011542841.1:c.7068_7070del (ATM)	XP_011541143.1:p.Ile2356del
XM_011542842.1:c.6903_6905del (ATM)	XP_011541144.1:p.Ile2301del
XM_011542843.1:c.7068_7070del (ATM)	XP_011541145.1:p.Ile2356del
XM_011542844.1:c.6024_6026del (ATM)	XP_011541146.1:p.Ile2008del
XM_011542845.1:c.5760_5762del (ATM)	XP_011541147.1:p.Ile1920del
XM_011542847.1:c.2139_2141del (ATM)	XP_011541149.1:p.Ile713del
NM_001330368.1:c.641-18664_641-18662del (C11orf65)	NP_001317297.1:n.641-18664_641-18662del
NM_001351110.1:c.*38+7485_*38+7487del (C11orf65)	NP_001338039.1:n.*38+7485_*38+7487del
NM_001351834.1:c.7068_7070del (ATM)	NP_001338763.1:p.Ile2356del
XM_005271562.5:c.7068_7070del (ATM)	XP_005271619.2:p.Ile2356del
XM_006718843.4:c.7068_7070del (ATM)	XP_006718906.1:p.Ile2356del
XM_006718845.2:c.3024_3026del (ATM)	XP_006718908.1:p.Ile1008del
XM_011542840.3:c.7068_7070del (ATM)	XP_011541142.1:p.Ile2356del
XM_011542842.3:c.6903_6905del (ATM)	XP_011541144.1:p.Ile2301del
XM_011542843.2:c.7068_7070del (ATM)	XP_011541145.1:p.Ile2356del
XM_011542844.3:c.6024_6026del (ATM)	XP_011541146.1:p.Ile2008del
XM_011542845.2:c.5760_5762del (ATM)	XP_011541147.1:p.Ile1920del
XM_017017789.2:c.7068_7070del (ATM)	XP_016873278.1:p.Ile2356del
XM_017017790.2:c.7068_7070del (ATM)	XP_016873279.1:p.Ile2356del
NM_001330368.2:c.641-18664_641-18662del (C11orf65)	NP_001317297.1:n.641-18664_641-18662del
NM_001351110.2:c.*38+7485_*38+7487del (C11orf65)	NP_001338039.1:n.*38+7485_*38+7487del
NM_001351834.2:c.7068_7070del (ATM)	NP_001338763.1:p.Ile2356del
NM_000051.4:c.7068_7070del (ATM) MANE Select	NP_000042.3:p.Ile2356del