Canonical Allele Identifier: CA1998807811

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325446_108325448delinsAAG , CM000673.2:g.108325446_108325448delinsAAG	GRCh38
NC_000011.9:g.108196173_108196175delinsAAG , CM000673.1:g.108196173_108196175delinsAAG	GRCh37
NC_000011.8:g.107701383_107701385delinsAAG	NCBI36
NG_009830.1:g.107615_107617delinsAAG , LRG_135:g.107615_107617delinsAAG
NG_054724.1:g.149385_149387delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6709_6711delinsAAG (ATM)	ENSP00000388058.2:p.Lys2237=
ENST00000713593.1:c.*6180_*6182delinsAAG (ATM)	ENSP00000518889.1:n.*6180_*6182delinsAAG
ENST00000278616.9:c.6709_6711delinsAAG (ATM)	ENSP00000278616.4:p.Lys2237=
ENST00000525056.2:n.1128_1130delinsAAG (ATM)
ENST00000682286.1:n.1466_1468delinsAAG (ATM)
ENST00000682302.1:n.1127_1129delinsAAG (ATM)
ENST00000683174.1:n.8193_8195delinsAAG (ATM)
ENST00000683524.1:n.1933_1935delinsAAG (ATM)
ENST00000684152.1:n.2423_2425delinsAAG (ATM)
ENST00000527805.6:c.*1773_*1775delinsAAG (ATM)	ENSP00000435747.2:n.*1773_*1775delinsAAG
ENST00000675595.1:c.*1844_*1846delinsAAG (ATM)	ENSP00000502563.1:n.*1844_*1846delinsAAG
ENST00000675843.1:c.6709_6711delinsAAG (ATM) MANE Select	ENSP00000501606.1:p.Lys2237=
ENST00000278616.8:c.6709_6711delinsAAG (ATM)	ENSP00000278616.4:p.Lys2237=
ENST00000452508.6:c.6709_6711delinsAAG (ATM)	ENSP00000388058.2:p.Lys2237=
ENST00000524792.5:n.2924_2926delinsAAG (ATM)
ENST00000525729.5:c.641-16377_641-16375delinsCTT (C11orf65)	ENSP00000433395.1:n.641-16377_641-16375delinsCTT
ENST00000533690.5:n.2113_2115delinsAAG (ATM)
NM_000051.3:c.6709_6711delinsAAG , LRG_135t1:c.6709_6711delinsAAG (ATM)	NP_000042.3:p.Lys2237=
XM_005271561.3:c.6709_6711delinsAAG (ATM)	XP_005271618.2:p.Lys2237=
XM_005271562.3:c.6709_6711delinsAAG (ATM)	XP_005271619.2:p.Lys2237=
XM_006718843.2:c.6709_6711delinsAAG (ATM)	XP_006718906.1:p.Lys2237=
XM_006718845.1:c.2665_2667delinsAAG (ATM)	XP_006718908.1:p.Lys889=
XM_011542840.1:c.6709_6711delinsAAG (ATM)	XP_011541142.1:p.Lys2237=
XM_011542841.1:c.6709_6711delinsAAG (ATM)	XP_011541143.1:p.Lys2237=
XM_011542842.1:c.6544_6546delinsAAG (ATM)	XP_011541144.1:p.Lys2182=
XM_011542843.1:c.6709_6711delinsAAG (ATM)	XP_011541145.1:p.Lys2237=
XM_011542844.1:c.5665_5667delinsAAG (ATM)	XP_011541146.1:p.Lys1889=
XM_011542845.1:c.5401_5403delinsAAG (ATM)	XP_011541147.1:p.Lys1801=
XM_011542847.1:c.1780_1782delinsAAG (ATM)	XP_011541149.1:p.Lys594=
NM_001330368.1:c.641-16377_641-16375delinsCTT (C11orf65)	NP_001317297.1:n.641-16377_641-16375delinsCTT
NM_001351110.1:c.*38+9772_*38+9774delinsCTT (C11orf65)	NP_001338039.1:n.*38+9772_*38+9774delinsCTT
NM_001351834.1:c.6709_6711delinsAAG (ATM)	NP_001338763.1:p.Lys2237=
XM_005271562.5:c.6709_6711delinsAAG (ATM)	XP_005271619.2:p.Lys2237=
XM_006718843.4:c.6709_6711delinsAAG (ATM)	XP_006718906.1:p.Lys2237=
XM_006718845.2:c.2665_2667delinsAAG (ATM)	XP_006718908.1:p.Lys889=
XM_011542840.3:c.6709_6711delinsAAG (ATM)	XP_011541142.1:p.Lys2237=
XM_011542842.3:c.6544_6546delinsAAG (ATM)	XP_011541144.1:p.Lys2182=
XM_011542843.2:c.6709_6711delinsAAG (ATM)	XP_011541145.1:p.Lys2237=
XM_011542844.3:c.5665_5667delinsAAG (ATM)	XP_011541146.1:p.Lys1889=
XM_011542845.2:c.5401_5403delinsAAG (ATM)	XP_011541147.1:p.Lys1801=
XM_017017789.2:c.6709_6711delinsAAG (ATM)	XP_016873278.1:p.Lys2237=
XM_017017790.2:c.6709_6711delinsAAG (ATM)	XP_016873279.1:p.Lys2237=
NM_001330368.2:c.641-16377_641-16375delinsCTT (C11orf65)	NP_001317297.1:n.641-16377_641-16375delinsCTT
NM_001351110.2:c.*38+9772_*38+9774delinsCTT (C11orf65)	NP_001338039.1:n.*38+9772_*38+9774delinsCTT
NM_001351834.2:c.6709_6711delinsAAG (ATM)	NP_001338763.1:p.Lys2237=
NM_000051.4:c.6709_6711delinsAAG (ATM) MANE Select	NP_000042.3:p.Lys2237=