Canonical Allele Identifier: CA1998812355

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108335054_108335055delinsCA , CM000673.2:g.108335054_108335055delinsCA	GRCh38
NC_000011.9:g.108205781_108205782delinsCA , CM000673.1:g.108205781_108205782delinsCA	GRCh37
NC_000011.8:g.107710991_107710992delinsCA	NCBI36
NG_009830.1:g.117223_117224delinsCA , LRG_135:g.117223_117224delinsCA
NG_054724.1:g.139778_139779delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8096_8097delinsCA (ATM)	ENSP00000388058.2:p.Pro2699=
ENST00000713593.1:c.*7567_*7568delinsCA (ATM)	ENSP00000518889.1:n.*7567_*7568delinsCA
ENST00000278616.9:c.8096_8097delinsCA (ATM)	ENSP00000278616.4:p.Pro2699=
ENST00000525056.2:n.2515_2516delinsCA (ATM)
ENST00000638786.2:n.794_795delinsCA (ATM)
ENST00000682286.1:n.2853_2854delinsCA (ATM)
ENST00000682302.1:n.2514_2515delinsCA (ATM)
ENST00000683174.1:n.9580_9581delinsCA (ATM)
ENST00000683524.1:n.3320_3321delinsCA (ATM)
ENST00000684152.1:n.3512_3513delinsCA (ATM)
ENST00000684180.1:n.570_571delinsCA (ATM)
ENST00000684447.1:n.4589_4590delinsCA (ATM)
ENST00000527805.6:c.*3160_*3161delinsCA (ATM)	ENSP00000435747.2:n.*3160_*3161delinsCA
ENST00000675595.1:c.*3231_*3232delinsCA (ATM)	ENSP00000502563.1:n.*3231_*3232delinsCA
ENST00000675843.1:c.8096_8097delinsCA (ATM) MANE Select	ENSP00000501606.1:p.Pro2699=
ENST00000278616.8:c.8096_8097delinsCA (ATM)	ENSP00000278616.4:p.Pro2699=
ENST00000452508.6:c.8096_8097delinsCA (ATM)	ENSP00000388058.2:p.Pro2699=
ENST00000524755.5:c.299+165_299+166delinsTG (C11orf65)
ENST00000524792.5:n.4311_4312delinsCA (ATM)
ENST00000525056.1:n.293_294delinsCA (ATM)
ENST00000525729.5:c.641-25984_641-25983delinsTG (C11orf65)	ENSP00000433395.1:n.641-25984_641-25983delinsTG
ENST00000527531.5:c.*1269+165_*1269+166delinsTG (C11orf65)	ENSP00000431706.1:n.*1269+165_*1269+166delinsTG
ENST00000533979.5:n.308_309delinsCA (ATM)
ENST00000615746.4:c.*1269+165_*1269+166delinsTG (C11orf65)	ENSP00000483537.1:n.*1269+165_*1269+166delinsTG
NM_000051.3:c.8096_8097delinsCA , LRG_135t1:c.8096_8097delinsCA (ATM)	NP_000042.3:p.Pro2699=
XM_005271414.3:c.*38+165_*38+166delinsTG (C11orf65)	XP_005271471.1:n.*38+165_*38+166delinsTG
XM_005271415.3:c.804+165_804+166delinsTG (C11orf65)	XP_005271472.1:n.804+165_804+166delinsTG
XM_005271561.3:c.8096_8097delinsCA (ATM)	XP_005271618.2:p.Pro2699=
XM_005271562.3:c.8096_8097delinsCA (ATM)	XP_005271619.2:p.Pro2699=
XM_006718843.2:c.8096_8097delinsCA (ATM)	XP_006718906.1:p.Pro2699=
XM_006718845.1:c.4052_4053delinsCA (ATM)	XP_006718908.1:p.Pro1351=
XM_011542840.1:c.8096_8097delinsCA (ATM)	XP_011541142.1:p.Pro2699=
XM_011542841.1:c.8096_8097delinsCA (ATM)	XP_011541143.1:p.Pro2699=
XM_011542842.1:c.7931_7932delinsCA (ATM)	XP_011541144.1:p.Pro2644=
XM_011542843.1:c.8096_8097delinsCA (ATM)	XP_011541145.1:p.Pro2699=
XM_011542844.1:c.7052_7053delinsCA (ATM)	XP_011541146.1:p.Pro2351=
XM_011542845.1:c.6788_6789delinsCA (ATM)	XP_011541147.1:p.Pro2263=
XM_011542847.1:c.3167_3168delinsCA (ATM)	XP_011541149.1:p.Pro1056=
NM_001330368.1:c.641-25984_641-25983delinsTG (C11orf65)	NP_001317297.1:n.641-25984_641-25983delinsTG
NM_001351110.1:c.*38+165_*38+166delinsTG (C11orf65)	NP_001338039.1:n.*38+165_*38+166delinsTG
NM_001351834.1:c.8096_8097delinsCA (ATM)	NP_001338763.1:p.Pro2699=
NR_147053.2:n.2374+165_2374+166delinsTG (C11orf65)
XM_005271414.4:c.*38+165_*38+166delinsTG (C11orf65)	XP_005271471.1:n.*38+165_*38+166delinsTG
XM_005271415.4:c.804+165_804+166delinsTG (C11orf65)	XP_005271472.1:n.804+165_804+166delinsTG
XM_005271562.5:c.8096_8097delinsCA (ATM)	XP_005271619.2:p.Pro2699=
XM_006718843.4:c.8096_8097delinsCA (ATM)	XP_006718906.1:p.Pro2699=
XM_006718845.2:c.4052_4053delinsCA (ATM)	XP_006718908.1:p.Pro1351=
XM_011542840.3:c.8096_8097delinsCA (ATM)	XP_011541142.1:p.Pro2699=
XM_011542842.3:c.7931_7932delinsCA (ATM)	XP_011541144.1:p.Pro2644=
XM_011542843.2:c.8096_8097delinsCA (ATM)	XP_011541145.1:p.Pro2699=
XM_011542844.3:c.7052_7053delinsCA (ATM)	XP_011541146.1:p.Pro2351=
XM_011542845.2:c.6788_6789delinsCA (ATM)	XP_011541147.1:p.Pro2263=
XM_017017789.2:c.8096_8097delinsCA (ATM)	XP_016873278.1:p.Pro2699=
XM_017017790.2:c.8096_8097delinsCA (ATM)	XP_016873279.1:p.Pro2699=
NM_001330368.2:c.641-25984_641-25983delinsTG (C11orf65)	NP_001317297.1:n.641-25984_641-25983delinsTG
NM_001351110.2:c.*38+165_*38+166delinsTG (C11orf65)	NP_001338039.1:n.*38+165_*38+166delinsTG
NM_001351834.2:c.8096_8097delinsCA (ATM)	NP_001338763.1:p.Pro2699=
NM_000051.4:c.8096_8097delinsCA (ATM) MANE Select	NP_000042.3:p.Pro2699=
NR_147053.3:n.2372+165_2372+166delinsTG (C11orf65)