Canonical Allele Identifier: CA2580615057

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2415193
• ClinVar RCV Id: RCV003110612

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108332747_108332753del , CM000673.2:g.108332747_108332753del	GRCh38
NC_000011.9:g.108203474_108203480del , CM000673.1:g.108203474_108203480del	GRCh37
NC_000011.8:g.107708684_107708690del	NCBI36
NG_009830.1:g.114916_114922del , LRG_135:g.114916_114922del
NG_054724.1:g.142088_142094del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7789-15_7789-9del (ATM)	ENSP00000388058.2:n.7789-15_7789-9del
ENST00000713593.1:c.*7260-15_*7260-9del (ATM)	ENSP00000518889.1:n.*7260-15_*7260-9del
ENST00000278616.9:c.7789-15_7789-9del (ATM)	ENSP00000278616.4:n.7789-15_7789-9del
ENST00000525056.2:n.2208-15_2208-9del (ATM)
ENST00000525537.3:n.1455_1461del (ATM)
ENST00000638786.2:n.625+710_625+716del (ATM)
ENST00000682286.1:n.2546-15_2546-9del (ATM)
ENST00000682302.1:n.2207-15_2207-9del (ATM)
ENST00000683174.1:n.9273-15_9273-9del (ATM)
ENST00000683524.1:n.3013-15_3013-9del (ATM)
ENST00000684152.1:n.3344-1139_3344-1133del (ATM)
ENST00000684180.1:n.248_254del (ATM)
ENST00000684447.1:n.3282_3288del (ATM)
ENST00000527805.6:c.*2853-15_*2853-9del (ATM)	ENSP00000435747.2:n.*2853-15_*2853-9del
ENST00000675595.1:c.*2924-15_*2924-9del (ATM)	ENSP00000502563.1:n.*2924-15_*2924-9del
ENST00000675843.1:c.7789-15_7789-9del (ATM) MANE Select	ENSP00000501606.1:n.7789-15_7789-9del
ENST00000278616.8:c.7789-15_7789-9del (ATM)	ENSP00000278616.4:n.7789-15_7789-9del
ENST00000452508.6:c.7789-15_7789-9del (ATM)	ENSP00000388058.2:n.7789-15_7789-9del
ENST00000524755.5:c.300-1178_300-1172del (C11orf65)
ENST00000524792.5:n.4004-15_4004-9del (ATM)
ENST00000525729.5:c.641-23674_641-23668del (C11orf65)	ENSP00000433395.1:n.641-23674_641-23668del
ENST00000527531.5:c.*1270-1178_*1270-1172del (C11orf65)	ENSP00000431706.1:n.*1270-1178_*1270-1172del
ENST00000533690.5:n.3193-15_3193-9del (ATM)
ENST00000615746.4:c.*1270-1178_*1270-1172del (C11orf65)	ENSP00000483537.1:n.*1270-1178_*1270-1172del
NM_000051.3:c.7789-15_7789-9del , LRG_135t1:c.7789-15_7789-9del (ATM)	NP_000042.3:n.7789-15_7789-9del
XM_005271414.3:c.*39-1178_*39-1172del (C11orf65)	XP_005271471.1:n.*39-1178_*39-1172del
XM_005271415.3:c.805-1178_805-1172del (C11orf65)	XP_005271472.1:n.805-1178_805-1172del
XM_005271561.3:c.7789-15_7789-9del (ATM)	XP_005271618.2:n.7789-15_7789-9del
XM_005271562.3:c.7789-15_7789-9del (ATM)	XP_005271619.2:n.7789-15_7789-9del
XM_006718843.2:c.7789-15_7789-9del (ATM)	XP_006718906.1:n.7789-15_7789-9del
XM_006718845.1:c.3745-15_3745-9del (ATM)	XP_006718908.1:n.3745-15_3745-9del
XM_011542840.1:c.7789-15_7789-9del (ATM)	XP_011541142.1:n.7789-15_7789-9del
XM_011542841.1:c.7789-15_7789-9del (ATM)	XP_011541143.1:n.7789-15_7789-9del
XM_011542842.1:c.7624-15_7624-9del (ATM)	XP_011541144.1:n.7624-15_7624-9del
XM_011542843.1:c.7789-15_7789-9del (ATM)	XP_011541145.1:n.7789-15_7789-9del
XM_011542844.1:c.6745-15_6745-9del (ATM)	XP_011541146.1:n.6745-15_6745-9del
XM_011542845.1:c.6481-15_6481-9del (ATM)	XP_011541147.1:n.6481-15_6481-9del
XM_011542847.1:c.2860-15_2860-9del (ATM)	XP_011541149.1:n.2860-15_2860-9del
NM_001330368.1:c.641-23674_641-23668del (C11orf65)	NP_001317297.1:n.641-23674_641-23668del
NM_001351110.1:c.*38+2475_*38+2481del (C11orf65)	NP_001338039.1:n.*38+2475_*38+2481del
NM_001351834.1:c.7789-15_7789-9del (ATM)	NP_001338763.1:n.7789-15_7789-9del
NR_147053.2:n.2375-1178_2375-1172del (C11orf65)
XM_005271414.4:c.*39-1178_*39-1172del (C11orf65)	XP_005271471.1:n.*39-1178_*39-1172del
XM_005271415.4:c.805-1178_805-1172del (C11orf65)	XP_005271472.1:n.805-1178_805-1172del
XM_005271562.5:c.7789-15_7789-9del (ATM)	XP_005271619.2:n.7789-15_7789-9del
XM_006718843.4:c.7789-15_7789-9del (ATM)	XP_006718906.1:n.7789-15_7789-9del
XM_006718845.2:c.3745-15_3745-9del (ATM)	XP_006718908.1:n.3745-15_3745-9del
XM_011542840.3:c.7789-15_7789-9del (ATM)	XP_011541142.1:n.7789-15_7789-9del
XM_011542842.3:c.7624-15_7624-9del (ATM)	XP_011541144.1:n.7624-15_7624-9del
XM_011542843.2:c.7789-15_7789-9del (ATM)	XP_011541145.1:n.7789-15_7789-9del
XM_011542844.3:c.6745-15_6745-9del (ATM)	XP_011541146.1:n.6745-15_6745-9del
XM_011542845.2:c.6481-15_6481-9del (ATM)	XP_011541147.1:n.6481-15_6481-9del
XM_017017789.2:c.7789-15_7789-9del (ATM)	XP_016873278.1:n.7789-15_7789-9del
XM_017017790.2:c.7789-15_7789-9del (ATM)	XP_016873279.1:n.7789-15_7789-9del
NM_001330368.2:c.641-23674_641-23668del (C11orf65)	NP_001317297.1:n.641-23674_641-23668del
NM_001351110.2:c.*38+2475_*38+2481del (C11orf65)	NP_001338039.1:n.*38+2475_*38+2481del
NM_001351834.2:c.7789-15_7789-9del (ATM)	NP_001338763.1:n.7789-15_7789-9del
NM_000051.4:c.7789-15_7789-9del (ATM) MANE Select	NP_000042.3:n.7789-15_7789-9del
NR_147053.3:n.2373-1178_2373-1172del (C11orf65)