Canonical Allele Identifier: CA1998809603

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327677_108327679delinsATG , CM000673.2:g.108327677_108327679delinsATG	GRCh38
NC_000011.9:g.108198404_108198406delinsATG , CM000673.1:g.108198404_108198406delinsATG	GRCh37
NC_000011.8:g.107703614_107703616delinsATG	NCBI36
NG_009830.1:g.109846_109848delinsATG , LRG_135:g.109846_109848delinsATG
NG_054724.1:g.147154_147156delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7008_7010delinsATG (ATM)	ENSP00000388058.2:p.Glu2336=
ENST00000713593.1:c.*6479_*6481delinsATG (ATM)	ENSP00000518889.1:n.*6479_*6481delinsATG
ENST00000278616.9:c.7008_7010delinsATG (ATM)	ENSP00000278616.4:p.Glu2336=
ENST00000525056.2:n.1427_1429delinsATG (ATM)
ENST00000682286.1:n.1765_1767delinsATG (ATM)
ENST00000682302.1:n.1426_1428delinsATG (ATM)
ENST00000683174.1:n.8492_8494delinsATG (ATM)
ENST00000683524.1:n.2232_2234delinsATG (ATM)
ENST00000684152.1:n.2722_2724delinsATG (ATM)
ENST00000684447.1:n.1471_1473delinsATG (ATM)
ENST00000527805.6:c.*2072_*2074delinsATG (ATM)	ENSP00000435747.2:n.*2072_*2074delinsATG
ENST00000675595.1:c.*2143_*2145delinsATG (ATM)	ENSP00000502563.1:n.*2143_*2145delinsATG
ENST00000675843.1:c.7008_7010delinsATG (ATM) MANE Select	ENSP00000501606.1:p.Glu2336=
ENST00000278616.8:c.7008_7010delinsATG (ATM)	ENSP00000278616.4:p.Glu2336=
ENST00000452508.6:c.7008_7010delinsATG (ATM)	ENSP00000388058.2:p.Glu2336=
ENST00000524792.5:n.3223_3225delinsATG (ATM)
ENST00000525537.2:n.284_286delinsATG (ATM)
ENST00000525729.5:c.641-18608_641-18606delinsCAT (C11orf65)	ENSP00000433395.1:n.641-18608_641-18606delinsCAT
ENST00000527389.2:n.33_35delinsATG (ATM)
ENST00000533690.5:n.2412_2414delinsATG (ATM)
NM_000051.3:c.7008_7010delinsATG , LRG_135t1:c.7008_7010delinsATG (ATM)	NP_000042.3:p.Glu2336=
XM_005271561.3:c.7008_7010delinsATG (ATM)	XP_005271618.2:p.Glu2336=
XM_005271562.3:c.7008_7010delinsATG (ATM)	XP_005271619.2:p.Glu2336=
XM_006718843.2:c.7008_7010delinsATG (ATM)	XP_006718906.1:p.Glu2336=
XM_006718845.1:c.2964_2966delinsATG (ATM)	XP_006718908.1:p.Glu988=
XM_011542840.1:c.7008_7010delinsATG (ATM)	XP_011541142.1:p.Glu2336=
XM_011542841.1:c.7008_7010delinsATG (ATM)	XP_011541143.1:p.Glu2336=
XM_011542842.1:c.6843_6845delinsATG (ATM)	XP_011541144.1:p.Glu2281=
XM_011542843.1:c.7008_7010delinsATG (ATM)	XP_011541145.1:p.Glu2336=
XM_011542844.1:c.5964_5966delinsATG (ATM)	XP_011541146.1:p.Glu1988=
XM_011542845.1:c.5700_5702delinsATG (ATM)	XP_011541147.1:p.Glu1900=
XM_011542847.1:c.2079_2081delinsATG (ATM)	XP_011541149.1:p.Glu693=
NM_001330368.1:c.641-18608_641-18606delinsCAT (C11orf65)	NP_001317297.1:n.641-18608_641-18606delinsCAT
NM_001351110.1:c.*38+7541_*38+7543delinsCAT (C11orf65)	NP_001338039.1:n.*38+7541_*38+7543delinsCAT
NM_001351834.1:c.7008_7010delinsATG (ATM)	NP_001338763.1:p.Glu2336=
XM_005271562.5:c.7008_7010delinsATG (ATM)	XP_005271619.2:p.Glu2336=
XM_006718843.4:c.7008_7010delinsATG (ATM)	XP_006718906.1:p.Glu2336=
XM_006718845.2:c.2964_2966delinsATG (ATM)	XP_006718908.1:p.Glu988=
XM_011542840.3:c.7008_7010delinsATG (ATM)	XP_011541142.1:p.Glu2336=
XM_011542842.3:c.6843_6845delinsATG (ATM)	XP_011541144.1:p.Glu2281=
XM_011542843.2:c.7008_7010delinsATG (ATM)	XP_011541145.1:p.Glu2336=
XM_011542844.3:c.5964_5966delinsATG (ATM)	XP_011541146.1:p.Glu1988=
XM_011542845.2:c.5700_5702delinsATG (ATM)	XP_011541147.1:p.Glu1900=
XM_017017789.2:c.7008_7010delinsATG (ATM)	XP_016873278.1:p.Glu2336=
XM_017017790.2:c.7008_7010delinsATG (ATM)	XP_016873279.1:p.Glu2336=
NM_001330368.2:c.641-18608_641-18606delinsCAT (C11orf65)	NP_001317297.1:n.641-18608_641-18606delinsCAT
NM_001351110.2:c.*38+7541_*38+7543delinsCAT (C11orf65)	NP_001338039.1:n.*38+7541_*38+7543delinsCAT
NM_001351834.2:c.7008_7010delinsATG (ATM)	NP_001338763.1:p.Glu2336=
NM_000051.4:c.7008_7010delinsATG (ATM) MANE Select	NP_000042.3:p.Glu2336=