Canonical Allele Identifier: CA1998805490

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108319957_108319958delinsAG , CM000673.2:g.108319957_108319958delinsAG	GRCh38
NC_000011.9:g.108190684_108190685delinsAG , CM000673.1:g.108190684_108190685delinsAG	GRCh37
NC_000011.8:g.107695894_107695895delinsAG	NCBI36
NG_009830.1:g.102126_102127delinsAG , LRG_135:g.102126_102127delinsAG
NG_054724.1:g.154875_154876delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6351_6352delinsAG (ATM)	ENSP00000388058.2:p.Lys2117=
ENST00000713593.1:c.*5822_*5823delinsAG (ATM)	ENSP00000518889.1:n.*5822_*5823delinsAG
ENST00000278616.9:c.6351_6352delinsAG (ATM)	ENSP00000278616.4:p.Lys2117=
ENST00000525056.2:n.770_771delinsAG (ATM)
ENST00000682286.1:n.1108_1109delinsAG (ATM)
ENST00000682302.1:n.769_770delinsAG (ATM)
ENST00000683174.1:n.7835_7836delinsAG (ATM)
ENST00000683524.1:n.1575_1576delinsAG (ATM)
ENST00000684152.1:n.2065_2066delinsAG (ATM)
ENST00000527805.6:c.*1415_*1416delinsAG (ATM)	ENSP00000435747.2:n.*1415_*1416delinsAG
ENST00000675595.1:c.*1415_*1416delinsAG (ATM)	ENSP00000502563.1:n.*1415_*1416delinsAG
ENST00000675843.1:c.6351_6352delinsAG (ATM) MANE Select	ENSP00000501606.1:p.Lys2117=
ENST00000278616.8:c.6351_6352delinsAG (ATM)	ENSP00000278616.4:p.Lys2117=
ENST00000452508.6:c.6351_6352delinsAG (ATM)	ENSP00000388058.2:p.Lys2117=
ENST00000524792.5:n.2566_2567delinsAG (ATM)
ENST00000525729.5:c.641-10887_641-10886delinsCT (C11orf65)	ENSP00000433395.1:n.641-10887_641-10886delinsCT
ENST00000533690.5:n.1755_1756delinsAG (ATM)
NM_000051.3:c.6351_6352delinsAG , LRG_135t1:c.6351_6352delinsAG (ATM)	NP_000042.3:p.Lys2117=
XM_005271561.3:c.6351_6352delinsAG (ATM)	XP_005271618.2:p.Lys2117=
XM_005271562.3:c.6351_6352delinsAG (ATM)	XP_005271619.2:p.Lys2117=
XM_006718843.2:c.6351_6352delinsAG (ATM)	XP_006718906.1:p.Lys2117=
XM_006718845.1:c.2307_2308delinsAG (ATM)	XP_006718908.1:p.Lys769=
XM_011542840.1:c.6351_6352delinsAG (ATM)	XP_011541142.1:p.Lys2117=
XM_011542841.1:c.6351_6352delinsAG (ATM)	XP_011541143.1:p.Lys2117=
XM_011542842.1:c.6186_6187delinsAG (ATM)	XP_011541144.1:p.Lys2062=
XM_011542843.1:c.6351_6352delinsAG (ATM)	XP_011541145.1:p.Lys2117=
XM_011542844.1:c.5307_5308delinsAG (ATM)	XP_011541146.1:p.Lys1769=
XM_011542845.1:c.5043_5044delinsAG (ATM)	XP_011541147.1:p.Lys1681=
XM_011542847.1:c.1422_1423delinsAG (ATM)	XP_011541149.1:p.Lys474=
NM_001330368.1:c.641-10887_641-10886delinsCT (C11orf65)	NP_001317297.1:n.641-10887_641-10886delinsCT
NM_001351110.1:c.*39-10887_*39-10886delinsCT (C11orf65)	NP_001338039.1:n.*39-10887_*39-10886delinsCT
NM_001351834.1:c.6351_6352delinsAG (ATM)	NP_001338763.1:p.Lys2117=
XM_005271562.5:c.6351_6352delinsAG (ATM)	XP_005271619.2:p.Lys2117=
XM_006718843.4:c.6351_6352delinsAG (ATM)	XP_006718906.1:p.Lys2117=
XM_006718845.2:c.2307_2308delinsAG (ATM)	XP_006718908.1:p.Lys769=
XM_011542840.3:c.6351_6352delinsAG (ATM)	XP_011541142.1:p.Lys2117=
XM_011542842.3:c.6186_6187delinsAG (ATM)	XP_011541144.1:p.Lys2062=
XM_011542843.2:c.6351_6352delinsAG (ATM)	XP_011541145.1:p.Lys2117=
XM_011542844.3:c.5307_5308delinsAG (ATM)	XP_011541146.1:p.Lys1769=
XM_011542845.2:c.5043_5044delinsAG (ATM)	XP_011541147.1:p.Lys1681=
XM_017017789.2:c.6351_6352delinsAG (ATM)	XP_016873278.1:p.Lys2117=
XM_017017790.2:c.6351_6352delinsAG (ATM)	XP_016873279.1:p.Lys2117=
XM_017017791.1:c.6351_6352delinsAG (ATM)	XP_016873280.1:p.Lys2117=
NM_001330368.2:c.641-10887_641-10886delinsCT (C11orf65)	NP_001317297.1:n.641-10887_641-10886delinsCT
NM_001351110.2:c.*39-10887_*39-10886delinsCT (C11orf65)	NP_001338039.1:n.*39-10887_*39-10886delinsCT
NM_001351834.2:c.6351_6352delinsAG (ATM)	NP_001338763.1:p.Lys2117=
NM_000051.4:c.6351_6352delinsAG (ATM) MANE Select	NP_000042.3:p.Lys2117=