Canonical Allele Identifier: CA1998811835

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333934_108333937delinsTAGA , CM000673.2:g.108333934_108333937delinsTAGA	GRCh38
NC_000011.9:g.108204661_108204664delinsTAGA , CM000673.1:g.108204661_108204664delinsTAGA	GRCh37
NC_000011.8:g.107709871_107709874delinsTAGA	NCBI36
NG_009830.1:g.116103_116106delinsTAGA , LRG_135:g.116103_116106delinsTAGA
NG_054724.1:g.140896_140899delinsTCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7976_7979delinsTAGA (ATM)	ENSP00000388058.2:p.Leu2659=
ENST00000713593.1:c.*7447_*7450delinsTAGA (ATM)	ENSP00000518889.1:n.*7447_*7450delinsTAGA
ENST00000278616.9:c.7976_7979delinsTAGA (ATM)	ENSP00000278616.4:p.Leu2659=
ENST00000525056.2:n.2395_2398delinsTAGA (ATM)
ENST00000638786.2:n.674_677delinsTAGA (ATM)
ENST00000682286.1:n.2733_2736delinsTAGA (ATM)
ENST00000682302.1:n.2394_2397delinsTAGA (ATM)
ENST00000683174.1:n.9460_9463delinsTAGA (ATM)
ENST00000683524.1:n.3200_3203delinsTAGA (ATM)
ENST00000684152.1:n.3392_3395delinsTAGA (ATM)
ENST00000684180.1:n.450_453delinsTAGA (ATM)
ENST00000684447.1:n.4469_4472delinsTAGA (ATM)
ENST00000527805.6:c.*3040_*3043delinsTAGA (ATM)	ENSP00000435747.2:n.*3040_*3043delinsTAGA
ENST00000675595.1:c.*3111_*3114delinsTAGA (ATM)	ENSP00000502563.1:n.*3111_*3114delinsTAGA
ENST00000675843.1:c.7976_7979delinsTAGA (ATM) MANE Select	ENSP00000501606.1:p.Leu2659=
ENST00000278616.8:c.7976_7979delinsTAGA (ATM)	ENSP00000278616.4:p.Leu2659=
ENST00000452508.6:c.7976_7979delinsTAGA (ATM)	ENSP00000388058.2:p.Leu2659=
ENST00000524755.5:c.299+1283_299+1286delinsTCTA (C11orf65)
ENST00000524792.5:n.4191_4194delinsTAGA (ATM)
ENST00000525056.1:n.173_176delinsTAGA (ATM)
ENST00000525729.5:c.641-24866_641-24863delinsTCTA (C11orf65)	ENSP00000433395.1:n.641-24866_641-24863delinsTCTA
ENST00000527531.5:c.*1269+1283_*1269+1286delinsTCTA (C11orf65)	ENSP00000431706.1:n.*1269+1283_*1269+1286delinsTCTA
ENST00000533979.5:n.188_191delinsTAGA (ATM)
ENST00000615746.4:c.*1269+1283_*1269+1286delinsTCTA (C11orf65)	ENSP00000483537.1:n.*1269+1283_*1269+1286delinsTCTA
NM_000051.3:c.7976_7979delinsTAGA , LRG_135t1:c.7976_7979delinsTAGA (ATM)	NP_000042.3:p.Leu2659=
XM_005271414.3:c.*38+1283_*38+1286delinsTCTA (C11orf65)	XP_005271471.1:n.*38+1283_*38+1286delinsTCTA
XM_005271415.3:c.804+1283_804+1286delinsTCTA (C11orf65)	XP_005271472.1:n.804+1283_804+1286delinsTCTA
XM_005271561.3:c.7976_7979delinsTAGA (ATM)	XP_005271618.2:p.Leu2659=
XM_005271562.3:c.7976_7979delinsTAGA (ATM)	XP_005271619.2:p.Leu2659=
XM_006718843.2:c.7976_7979delinsTAGA (ATM)	XP_006718906.1:p.Leu2659=
XM_006718845.1:c.3932_3935delinsTAGA (ATM)	XP_006718908.1:p.Leu1311=
XM_011542840.1:c.7976_7979delinsTAGA (ATM)	XP_011541142.1:p.Leu2659=
XM_011542841.1:c.7976_7979delinsTAGA (ATM)	XP_011541143.1:p.Leu2659=
XM_011542842.1:c.7811_7814delinsTAGA (ATM)	XP_011541144.1:p.Leu2604=
XM_011542843.1:c.7976_7979delinsTAGA (ATM)	XP_011541145.1:p.Leu2659=
XM_011542844.1:c.6932_6935delinsTAGA (ATM)	XP_011541146.1:p.Leu2311=
XM_011542845.1:c.6668_6671delinsTAGA (ATM)	XP_011541147.1:p.Leu2223=
XM_011542847.1:c.3047_3050delinsTAGA (ATM)	XP_011541149.1:p.Leu1016=
NM_001330368.1:c.641-24866_641-24863delinsTCTA (C11orf65)	NP_001317297.1:n.641-24866_641-24863delinsTCTA
NM_001351110.1:c.*38+1283_*38+1286delinsTCTA (C11orf65)	NP_001338039.1:n.*38+1283_*38+1286delinsTCTA
NM_001351834.1:c.7976_7979delinsTAGA (ATM)	NP_001338763.1:p.Leu2659=
NR_147053.2:n.2374+1283_2374+1286delinsTCTA (C11orf65)
XM_005271414.4:c.*38+1283_*38+1286delinsTCTA (C11orf65)	XP_005271471.1:n.*38+1283_*38+1286delinsTCTA
XM_005271415.4:c.804+1283_804+1286delinsTCTA (C11orf65)	XP_005271472.1:n.804+1283_804+1286delinsTCTA
XM_005271562.5:c.7976_7979delinsTAGA (ATM)	XP_005271619.2:p.Leu2659=
XM_006718843.4:c.7976_7979delinsTAGA (ATM)	XP_006718906.1:p.Leu2659=
XM_006718845.2:c.3932_3935delinsTAGA (ATM)	XP_006718908.1:p.Leu1311=
XM_011542840.3:c.7976_7979delinsTAGA (ATM)	XP_011541142.1:p.Leu2659=
XM_011542842.3:c.7811_7814delinsTAGA (ATM)	XP_011541144.1:p.Leu2604=
XM_011542843.2:c.7976_7979delinsTAGA (ATM)	XP_011541145.1:p.Leu2659=
XM_011542844.3:c.6932_6935delinsTAGA (ATM)	XP_011541146.1:p.Leu2311=
XM_011542845.2:c.6668_6671delinsTAGA (ATM)	XP_011541147.1:p.Leu2223=
XM_017017789.2:c.7976_7979delinsTAGA (ATM)	XP_016873278.1:p.Leu2659=
XM_017017790.2:c.7976_7979delinsTAGA (ATM)	XP_016873279.1:p.Leu2659=
NM_001330368.2:c.641-24866_641-24863delinsTCTA (C11orf65)	NP_001317297.1:n.641-24866_641-24863delinsTCTA
NM_001351110.2:c.*38+1283_*38+1286delinsTCTA (C11orf65)	NP_001338039.1:n.*38+1283_*38+1286delinsTCTA
NM_001351834.2:c.7976_7979delinsTAGA (ATM)	NP_001338763.1:p.Leu2659=
NM_000051.4:c.7976_7979delinsTAGA (ATM) MANE Select	NP_000042.3:p.Leu2659=
NR_147053.3:n.2372+1283_2372+1286delinsTCTA (C11orf65)