Canonical Allele Identifier: CA1998811151

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332787_108332788delinsTA , CM000673.2:g.108332787_108332788delinsTA	GRCh38
NC_000011.9:g.108203514_108203515delinsTA , CM000673.1:g.108203514_108203515delinsTA	GRCh37
NC_000011.8:g.107708724_107708725delinsTA	NCBI36
NG_009830.1:g.114956_114957delinsTA , LRG_135:g.114956_114957delinsTA
NG_054724.1:g.142045_142046delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7814_7815delinsTA (ATM)	ENSP00000388058.2:p.Ile2605=
ENST00000713593.1:c.*7285_*7286delinsTA (ATM)	ENSP00000518889.1:n.*7285_*7286delinsTA
ENST00000278616.9:c.7814_7815delinsTA (ATM)	ENSP00000278616.4:p.Ile2605=
ENST00000525056.2:n.2233_2234delinsTA (ATM)
ENST00000525537.3:n.1495_1496delinsTA (ATM)
ENST00000638786.2:n.625+750_625+751delinsTA (ATM)
ENST00000682286.1:n.2571_2572delinsTA (ATM)
ENST00000682302.1:n.2232_2233delinsTA (ATM)
ENST00000683174.1:n.9298_9299delinsTA (ATM)
ENST00000683524.1:n.3038_3039delinsTA (ATM)
ENST00000684152.1:n.3344-1099_3344-1098delinsTA (ATM)
ENST00000684180.1:n.288_289delinsTA (ATM)
ENST00000684447.1:n.3322_3323delinsTA (ATM)
ENST00000527805.6:c.*2878_*2879delinsTA (ATM)	ENSP00000435747.2:n.*2878_*2879delinsTA
ENST00000675595.1:c.*2949_*2950delinsTA (ATM)	ENSP00000502563.1:n.*2949_*2950delinsTA
ENST00000675843.1:c.7814_7815delinsTA (ATM) MANE Select	ENSP00000501606.1:p.Ile2605=
ENST00000278616.8:c.7814_7815delinsTA (ATM)	ENSP00000278616.4:p.Ile2605=
ENST00000452508.6:c.7814_7815delinsTA (ATM)	ENSP00000388058.2:p.Ile2605=
ENST00000524755.5:c.300-1221_300-1220delinsTA (C11orf65)
ENST00000524792.5:n.4029_4030delinsTA (ATM)
ENST00000525056.1:n.11_12delinsTA (ATM)
ENST00000525729.5:c.641-23717_641-23716delinsTA (C11orf65)	ENSP00000433395.1:n.641-23717_641-23716delinsTA
ENST00000527531.5:c.*1270-1221_*1270-1220delinsTA (C11orf65)	ENSP00000431706.1:n.*1270-1221_*1270-1220delinsTA
ENST00000533690.5:n.3218_3219delinsTA (ATM)
ENST00000533979.5:n.26_27delinsTA (ATM)
ENST00000615746.4:c.*1270-1221_*1270-1220delinsTA (C11orf65)	ENSP00000483537.1:n.*1270-1221_*1270-1220delinsTA
NM_000051.3:c.7814_7815delinsTA , LRG_135t1:c.7814_7815delinsTA (ATM)	NP_000042.3:p.Ile2605=
XM_005271414.3:c.*39-1221_*39-1220delinsTA (C11orf65)	XP_005271471.1:n.*39-1221_*39-1220delinsTA
XM_005271415.3:c.805-1221_805-1220delinsTA (C11orf65)	XP_005271472.1:n.805-1221_805-1220delinsTA
XM_005271561.3:c.7814_7815delinsTA (ATM)	XP_005271618.2:p.Ile2605=
XM_005271562.3:c.7814_7815delinsTA (ATM)	XP_005271619.2:p.Ile2605=
XM_006718843.2:c.7814_7815delinsTA (ATM)	XP_006718906.1:p.Ile2605=
XM_006718845.1:c.3770_3771delinsTA (ATM)	XP_006718908.1:p.Ile1257=
XM_011542840.1:c.7814_7815delinsTA (ATM)	XP_011541142.1:p.Ile2605=
XM_011542841.1:c.7814_7815delinsTA (ATM)	XP_011541143.1:p.Ile2605=
XM_011542842.1:c.7649_7650delinsTA (ATM)	XP_011541144.1:p.Ile2550=
XM_011542843.1:c.7814_7815delinsTA (ATM)	XP_011541145.1:p.Ile2605=
XM_011542844.1:c.6770_6771delinsTA (ATM)	XP_011541146.1:p.Ile2257=
XM_011542845.1:c.6506_6507delinsTA (ATM)	XP_011541147.1:p.Ile2169=
XM_011542847.1:c.2885_2886delinsTA (ATM)	XP_011541149.1:p.Ile962=
NM_001330368.1:c.641-23717_641-23716delinsTA (C11orf65)	NP_001317297.1:n.641-23717_641-23716delinsTA
NM_001351110.1:c.*38+2432_*38+2433delinsTA (C11orf65)	NP_001338039.1:n.*38+2432_*38+2433delinsTA
NM_001351834.1:c.7814_7815delinsTA (ATM)	NP_001338763.1:p.Ile2605=
NR_147053.2:n.2375-1221_2375-1220delinsTA (C11orf65)
XM_005271414.4:c.*39-1221_*39-1220delinsTA (C11orf65)	XP_005271471.1:n.*39-1221_*39-1220delinsTA
XM_005271415.4:c.805-1221_805-1220delinsTA (C11orf65)	XP_005271472.1:n.805-1221_805-1220delinsTA
XM_005271562.5:c.7814_7815delinsTA (ATM)	XP_005271619.2:p.Ile2605=
XM_006718843.4:c.7814_7815delinsTA (ATM)	XP_006718906.1:p.Ile2605=
XM_006718845.2:c.3770_3771delinsTA (ATM)	XP_006718908.1:p.Ile1257=
XM_011542840.3:c.7814_7815delinsTA (ATM)	XP_011541142.1:p.Ile2605=
XM_011542842.3:c.7649_7650delinsTA (ATM)	XP_011541144.1:p.Ile2550=
XM_011542843.2:c.7814_7815delinsTA (ATM)	XP_011541145.1:p.Ile2605=
XM_011542844.3:c.6770_6771delinsTA (ATM)	XP_011541146.1:p.Ile2257=
XM_011542845.2:c.6506_6507delinsTA (ATM)	XP_011541147.1:p.Ile2169=
XM_017017789.2:c.7814_7815delinsTA (ATM)	XP_016873278.1:p.Ile2605=
XM_017017790.2:c.7814_7815delinsTA (ATM)	XP_016873279.1:p.Ile2605=
NM_001330368.2:c.641-23717_641-23716delinsTA (C11orf65)	NP_001317297.1:n.641-23717_641-23716delinsTA
NM_001351110.2:c.*38+2432_*38+2433delinsTA (C11orf65)	NP_001338039.1:n.*38+2432_*38+2433delinsTA
NM_001351834.2:c.7814_7815delinsTA (ATM)	NP_001338763.1:p.Ile2605=
NM_000051.4:c.7814_7815delinsTA (ATM) MANE Select	NP_000042.3:p.Ile2605=
NR_147053.3:n.2373-1221_2373-1220delinsTA (C11orf65)