Canonical Allele Identifier: CA2739265989

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2842867
• ClinVar RCV Id: RCV003605157

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108343254_108343297dup , CM000673.2:g.108343254_108343297dup	GRCh38
NC_000011.9:g.108213981_108214024dup , CM000673.1:g.108213981_108214024dup	GRCh37
NC_000011.8:g.107719191_107719234dup	NCBI36
NG_009830.1:g.125423_125466dup , LRG_135:g.125423_125466dup
NG_054724.1:g.131536_131579dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8301_8344dup (ATM)	ENSP00000388058.2:p.Asn2782MetfsTer39
ENST00000713593.1:c.*7772_*7815dup (ATM)	ENSP00000518889.1:n.*7772_*7815dup
ENST00000278616.9:c.8301_8344dup (ATM)	ENSP00000278616.4:p.Asn2782MetfsTer39
ENST00000638786.2:n.999_1042dup (ATM)
ENST00000682286.1:n.3058_3101dup (ATM)
ENST00000682302.1:n.2719_2762dup (ATM)
ENST00000683174.1:n.9785_9828dup (ATM)
ENST00000683524.1:n.3525_3568dup (ATM)
ENST00000684152.1:n.3717_3760dup (ATM)
ENST00000684180.1:n.775_818dup (ATM)
ENST00000684447.1:n.4794_4837dup (ATM)
ENST00000527805.6:c.*3365_*3408dup (ATM)	ENSP00000435747.2:n.*3365_*3408dup
ENST00000675595.1:c.*3436_*3479dup (ATM)	ENSP00000502563.1:n.*3436_*3479dup
ENST00000675843.1:c.8301_8344dup (ATM) MANE Select	ENSP00000501606.1:p.Asn2782MetfsTer39
ENST00000278616.8:c.8301_8344dup (ATM)	ENSP00000278616.4:p.Asn2782MetfsTer39
ENST00000452508.6:c.8301_8344dup (ATM)	ENSP00000388058.2:p.Asn2782MetfsTer39
ENST00000524755.5:c.227-8005_227-7962dup (C11orf65)
ENST00000524792.5:n.4516_4559dup (ATM)
ENST00000525729.5:c.641-34226_641-34183dup (C11orf65)	ENSP00000433395.1:n.641-34226_641-34183du...
ENST00000526725.1:n.272-2933_272-2890dup (C11orf65)
ENST00000527531.5:c.*1197-8005_*1197-7962dup (C11orf65)	ENSP00000431706.1:n.*1197-8005_*1197-7962...
ENST00000615746.4:c.*1197-8005_*1197-7962dup (C11orf65)	ENSP00000483537.1:n.*1197-8005_*1197-7962...
NM_000051.3:c.8301_8344dup , LRG_135t1:c.8301_8344dup (ATM)	NP_000042.3:p.Asn2782MetfsTer39
XM_005271414.3:c.788-8005_788-7962dup (C11orf65)	XP_005271471.1:n.788-8005_788-7962dup
XM_005271415.3:c.732-8005_732-7962dup (C11orf65)	XP_005271472.1:n.732-8005_732-7962dup
XM_005271561.3:c.8301_8344dup (ATM)	XP_005271618.2:p.Asn2782MetfsTer39
XM_005271562.3:c.8301_8344dup (ATM)	XP_005271619.2:p.Asn2782MetfsTer39
XM_006718843.2:c.8301_8344dup (ATM)	XP_006718906.1:p.Asn2782MetfsTer39
XM_006718845.1:c.4257_4300dup (ATM)	XP_006718908.1:p.Asn1434MetfsTer39
XM_011542640.1:c.788-2933_788-2890dup (C11orf65)	XP_011540942.1:n.788-2933_788-2890dup
XM_011542643.1:c.732-2933_732-2890dup (C11orf65)	XP_011540945.1:n.732-2933_732-2890dup
XM_011542840.1:c.8301_8344dup (ATM)	XP_011541142.1:p.Asn2782MetfsTer39
XM_011542841.1:c.8301_8344dup (ATM)	XP_011541143.1:p.Asn2782MetfsTer39
XM_011542842.1:c.8136_8179dup (ATM)	XP_011541144.1:p.Asn2727MetfsTer39
XM_011542843.1:c.8301_8344dup (ATM)	XP_011541145.1:p.Asn2782MetfsTer39
XM_011542844.1:c.7257_7300dup (ATM)	XP_011541146.1:p.Asn2434MetfsTer39
XM_011542845.1:c.6993_7036dup (ATM)	XP_011541147.1:p.Asn2346MetfsTer39
XM_011542847.1:c.3372_3415dup (ATM)	XP_011541149.1:p.Asn1139MetfsTer39
NM_001330368.1:c.641-34226_641-34183dup (C11orf65)	NP_001317297.1:n.641-34226_641-34183dup
NM_001351110.1:c.695-8005_695-7962dup (C11orf65)	NP_001338039.1:n.695-8005_695-7962dup
NM_001351834.1:c.8301_8344dup (ATM)	NP_001338763.1:p.Asn2782MetfsTer39
NR_147053.2:n.2302-8005_2302-7962dup (C11orf65)
XM_005271414.4:c.788-8005_788-7962dup (C11orf65)	XP_005271471.1:n.788-8005_788-7962dup
XM_005271415.4:c.732-8005_732-7962dup (C11orf65)	XP_005271472.1:n.732-8005_732-7962dup
XM_005271562.5:c.8301_8344dup (ATM)	XP_005271619.2:p.Asn2782MetfsTer39
XM_006718843.4:c.8301_8344dup (ATM)	XP_006718906.1:p.Asn2782MetfsTer39
XM_006718845.2:c.4257_4300dup (ATM)	XP_006718908.1:p.Asn1434MetfsTer39
XM_011542640.2:c.788-2933_788-2890dup (C11orf65)	XP_011540942.1:n.788-2933_788-2890dup
XM_011542643.2:c.732-2933_732-2890dup (C11orf65)	XP_011540945.1:n.732-2933_732-2890dup
XM_011542840.3:c.8301_8344dup (ATM)	XP_011541142.1:p.Asn2782MetfsTer39
XM_011542842.3:c.8136_8179dup (ATM)	XP_011541144.1:p.Asn2727MetfsTer39
XM_011542843.2:c.8301_8344dup (ATM)	XP_011541145.1:p.Asn2782MetfsTer39
XM_011542844.3:c.7257_7300dup (ATM)	XP_011541146.1:p.Asn2434MetfsTer39
XM_011542845.2:c.6993_7036dup (ATM)	XP_011541147.1:p.Asn2346MetfsTer39
XM_017017247.1:c.904-2933_904-2890dup (C11orf65)	XP_016872736.1:n.904-2933_904-2890dup
XM_017017789.2:c.8301_8344dup (ATM)	XP_016873278.1:p.Asn2782MetfsTer39
XM_017017790.2:c.8301_8344dup (ATM)	XP_016873279.1:p.Asn2782MetfsTer39
NM_001330368.2:c.641-34226_641-34183dup (C11orf65)	NP_001317297.1:n.641-34226_641-34183dup
NM_001351110.2:c.695-8005_695-7962dup (C11orf65)	NP_001338039.1:n.695-8005_695-7962dup
NM_001351834.2:c.8301_8344dup (ATM)	NP_001338763.1:p.Asn2782MetfsTer39
NM_000051.4:c.8301_8344dup (ATM) MANE Select	NP_000042.3:p.Asn2782MetfsTer39
NR_147053.3:n.2300-8005_2300-7962dup (C11orf65)