Canonical Allele Identifier: CA1998807855

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325500_108325501delinsCT , CM000673.2:g.108325500_108325501delinsCT	GRCh38
NC_000011.9:g.108196227_108196228delinsCT , CM000673.1:g.108196227_108196228delinsCT	GRCh37
NC_000011.8:g.107701437_107701438delinsCT	NCBI36
NG_009830.1:g.107669_107670delinsCT , LRG_135:g.107669_107670delinsCT
NG_054724.1:g.149332_149333delinsAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6763_6764delinsCT (ATM)	ENSP00000388058.2:p.Leu2255=
ENST00000713593.1:c.*6234_*6235delinsCT (ATM)	ENSP00000518889.1:n.*6234_*6235delinsCT
ENST00000278616.9:c.6763_6764delinsCT (ATM)	ENSP00000278616.4:p.Leu2255=
ENST00000525056.2:n.1182_1183delinsCT (ATM)
ENST00000682286.1:n.1520_1521delinsCT (ATM)
ENST00000682302.1:n.1181_1182delinsCT (ATM)
ENST00000683174.1:n.8247_8248delinsCT (ATM)
ENST00000683524.1:n.1987_1988delinsCT (ATM)
ENST00000684152.1:n.2477_2478delinsCT (ATM)
ENST00000527805.6:c.*1827_*1828delinsCT (ATM)	ENSP00000435747.2:n.*1827_*1828delinsCT
ENST00000675595.1:c.*1898_*1899delinsCT (ATM)	ENSP00000502563.1:n.*1898_*1899delinsCT
ENST00000675843.1:c.6763_6764delinsCT (ATM) MANE Select	ENSP00000501606.1:p.Leu2255=
ENST00000278616.8:c.6763_6764delinsCT (ATM)	ENSP00000278616.4:p.Leu2255=
ENST00000452508.6:c.6763_6764delinsCT (ATM)	ENSP00000388058.2:p.Leu2255=
ENST00000524792.5:n.2978_2979delinsCT (ATM)
ENST00000525729.5:c.641-16430_641-16429delinsAG (C11orf65)	ENSP00000433395.1:n.641-16430_641-16429delinsAG
ENST00000533690.5:n.2167_2168delinsCT (ATM)
NM_000051.3:c.6763_6764delinsCT , LRG_135t1:c.6763_6764delinsCT (ATM)	NP_000042.3:p.Leu2255=
XM_005271561.3:c.6763_6764delinsCT (ATM)	XP_005271618.2:p.Leu2255=
XM_005271562.3:c.6763_6764delinsCT (ATM)	XP_005271619.2:p.Leu2255=
XM_006718843.2:c.6763_6764delinsCT (ATM)	XP_006718906.1:p.Leu2255=
XM_006718845.1:c.2719_2720delinsCT (ATM)	XP_006718908.1:p.Leu907=
XM_011542840.1:c.6763_6764delinsCT (ATM)	XP_011541142.1:p.Leu2255=
XM_011542841.1:c.6763_6764delinsCT (ATM)	XP_011541143.1:p.Leu2255=
XM_011542842.1:c.6598_6599delinsCT (ATM)	XP_011541144.1:p.Leu2200=
XM_011542843.1:c.6763_6764delinsCT (ATM)	XP_011541145.1:p.Leu2255=
XM_011542844.1:c.5719_5720delinsCT (ATM)	XP_011541146.1:p.Leu1907=
XM_011542845.1:c.5455_5456delinsCT (ATM)	XP_011541147.1:p.Leu1819=
XM_011542847.1:c.1834_1835delinsCT (ATM)	XP_011541149.1:p.Leu612=
NM_001330368.1:c.641-16430_641-16429delinsAG (C11orf65)	NP_001317297.1:n.641-16430_641-16429delinsAG
NM_001351110.1:c.*38+9719_*38+9720delinsAG (C11orf65)	NP_001338039.1:n.*38+9719_*38+9720delinsAG
NM_001351834.1:c.6763_6764delinsCT (ATM)	NP_001338763.1:p.Leu2255=
XM_005271562.5:c.6763_6764delinsCT (ATM)	XP_005271619.2:p.Leu2255=
XM_006718843.4:c.6763_6764delinsCT (ATM)	XP_006718906.1:p.Leu2255=
XM_006718845.2:c.2719_2720delinsCT (ATM)	XP_006718908.1:p.Leu907=
XM_011542840.3:c.6763_6764delinsCT (ATM)	XP_011541142.1:p.Leu2255=
XM_011542842.3:c.6598_6599delinsCT (ATM)	XP_011541144.1:p.Leu2200=
XM_011542843.2:c.6763_6764delinsCT (ATM)	XP_011541145.1:p.Leu2255=
XM_011542844.3:c.5719_5720delinsCT (ATM)	XP_011541146.1:p.Leu1907=
XM_011542845.2:c.5455_5456delinsCT (ATM)	XP_011541147.1:p.Leu1819=
XM_017017789.2:c.6763_6764delinsCT (ATM)	XP_016873278.1:p.Leu2255=
XM_017017790.2:c.6763_6764delinsCT (ATM)	XP_016873279.1:p.Leu2255=
NM_001330368.2:c.641-16430_641-16429delinsAG (C11orf65)	NP_001317297.1:n.641-16430_641-16429delinsAG
NM_001351110.2:c.*38+9719_*38+9720delinsAG (C11orf65)	NP_001338039.1:n.*38+9719_*38+9720delinsAG
NM_001351834.2:c.6763_6764delinsCT (ATM)	NP_001338763.1:p.Leu2255=
NM_000051.4:c.6763_6764delinsCT (ATM) MANE Select	NP_000042.3:p.Leu2255=