Canonical Allele Identifier: CA2580615048

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2506972
• ClinVar RCV Id: RCV003237381

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108347276_108347278delinsT , CM000673.2:g.108347276_108347278delinsT	GRCh38
NC_000011.9:g.108218003_108218005delinsT , CM000673.1:g.108218003_108218005delinsT	GRCh37
NC_000011.8:g.107723213_107723215delinsT	NCBI36
NG_009830.1:g.129445_129447delinsT , LRG_135:g.129445_129447delinsT
NG_054724.1:g.127555_127557delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8585-3_8585-1delinsT (ATM)	ENSP00000388058.2:n.8585-3_8585-1delinsT
ENST00000713593.1:c.*8056-3_*8056-1delinsT (ATM)	ENSP00000518889.1:n.*8056-3_*8056-1delins...
ENST00000278616.9:c.8585-3_8585-1delinsT (ATM)	ENSP00000278616.4:n.8585-3_8585-1delinsT
ENST00000638786.2:n.1283-3_1283-1delinsT (ATM)
ENST00000682286.1:n.3342-3_3342-1delinsT (ATM)
ENST00000682302.1:n.3003-3_3003-1delinsT (ATM)
ENST00000683174.1:n.10069-3_10069-1delinsT (ATM)
ENST00000683524.1:n.3809-3_3809-1delinsT (ATM)
ENST00000684152.1:n.4001-3_4001-1delinsT (ATM)
ENST00000684180.1:n.1059-3_1059-1delinsT (ATM)
ENST00000684447.1:n.5078-3_5078-1delinsT (ATM)
ENST00000527805.6:c.*3649-3_*3649-1delinsT (ATM)	ENSP00000435747.2:n.*3649-3_*3649-1delins...
ENST00000675595.1:c.*3720-3_*3720-1delinsT (ATM)	ENSP00000502563.1:n.*3720-3_*3720-1delins...
ENST00000675843.1:c.8585-3_8585-1delinsT (ATM) MANE Select	ENSP00000501606.1:n.8585-3_8585-1delinsT
ENST00000278616.8:c.8585-3_8585-1delinsT (ATM)	ENSP00000278616.4:n.8585-3_8585-1delinsT
ENST00000452508.6:c.8585-3_8585-1delinsT (ATM)	ENSP00000388058.2:n.8585-3_8585-1delinsT
ENST00000524755.5:c.227-11986_227-11984delinsA (C11orf65)
ENST00000524792.5:n.4800-3_4800-1delinsT (ATM)
ENST00000525178.5:n.73-3_73-1delinsT (ATM)
ENST00000525729.5:c.641-38207_641-38205delinsA (C11orf65)	ENSP00000433395.1:n.641-38207_641-38205de...
ENST00000526725.1:n.272-6914_272-6912delinsA (C11orf65)
ENST00000527531.5:c.*1196+7637_*1196+7639delinsA (C11orf65)	ENSP00000431706.1:n.*1196+7637_*1196+7639...
ENST00000615746.4:c.*1196+7637_*1196+7639delinsA (C11orf65)	ENSP00000483537.1:n.*1196+7637_*1196+7639...
NM_000051.3:c.8585-3_8585-1delinsT , LRG_135t1:c.8585-3_8585-1delinsT (ATM)	NP_000042.3:n.8585-3_8585-1delinsT
XM_005271414.3:c.788-11986_788-11984delinsA (C11orf65)	XP_005271471.1:n.788-11986_788-11984delin...
XM_005271415.3:c.732-11986_732-11984delinsA (C11orf65)	XP_005271472.1:n.732-11986_732-11984delin...
XM_005271561.3:c.8585-3_8585-1delinsT (ATM)	XP_005271618.2:n.8585-3_8585-1delinsT
XM_005271562.3:c.8585-3_8585-1delinsT (ATM)	XP_005271619.2:n.8585-3_8585-1delinsT
XM_006718843.2:c.8585-3_8585-1delinsT (ATM)	XP_006718906.1:n.8585-3_8585-1delinsT
XM_006718845.1:c.4541-3_4541-1delinsT (ATM)	XP_006718908.1:n.4541-3_4541-1delinsT
XM_011542640.1:c.788-6914_788-6912delinsA (C11orf65)	XP_011540942.1:n.788-6914_788-6912delinsA...
XM_011542643.1:c.732-6914_732-6912delinsA (C11orf65)	XP_011540945.1:n.732-6914_732-6912delinsA...
XM_011542840.1:c.8585-3_8585-1delinsT (ATM)	XP_011541142.1:n.8585-3_8585-1delinsT
XM_011542841.1:c.8585-3_8585-1delinsT (ATM)	XP_011541143.1:n.8585-3_8585-1delinsT
XM_011542842.1:c.8420-3_8420-1delinsT (ATM)	XP_011541144.1:n.8420-3_8420-1delinsT
XM_011542843.1:c.8585-3_8585-1delinsT (ATM)	XP_011541145.1:n.8585-3_8585-1delinsT
XM_011542844.1:c.7541-3_7541-1delinsT (ATM)	XP_011541146.1:n.7541-3_7541-1delinsT
XM_011542845.1:c.7277-3_7277-1delinsT (ATM)	XP_011541147.1:n.7277-3_7277-1delinsT
XM_011542847.1:c.3656-3_3656-1delinsT (ATM)	XP_011541149.1:n.3656-3_3656-1delinsT
NM_001330368.1:c.641-38207_641-38205delinsA (C11orf65)	NP_001317297.1:n.641-38207_641-38205delin...
NM_001351110.1:c.695-11986_695-11984delinsA (C11orf65)	NP_001338039.1:n.695-11986_695-11984delin...
NM_001351834.1:c.8585-3_8585-1delinsT (ATM)	NP_001338763.1:n.8585-3_8585-1delinsT
NR_147053.2:n.2301+7637_2301+7639delinsA (C11orf65)
XM_005271414.4:c.788-11986_788-11984delinsA (C11orf65)	XP_005271471.1:n.788-11986_788-11984delin...
XM_005271415.4:c.732-11986_732-11984delinsA (C11orf65)	XP_005271472.1:n.732-11986_732-11984delin...
XM_005271562.5:c.8585-3_8585-1delinsT (ATM)	XP_005271619.2:n.8585-3_8585-1delinsT
XM_006718843.4:c.8585-3_8585-1delinsT (ATM)	XP_006718906.1:n.8585-3_8585-1delinsT
XM_006718845.2:c.4541-3_4541-1delinsT (ATM)	XP_006718908.1:n.4541-3_4541-1delinsT
XM_011542640.2:c.788-6914_788-6912delinsA (C11orf65)	XP_011540942.1:n.788-6914_788-6912delinsA...
XM_011542643.2:c.732-6914_732-6912delinsA (C11orf65)	XP_011540945.1:n.732-6914_732-6912delinsA...
XM_011542840.3:c.8585-3_8585-1delinsT (ATM)	XP_011541142.1:n.8585-3_8585-1delinsT
XM_011542842.3:c.8420-3_8420-1delinsT (ATM)	XP_011541144.1:n.8420-3_8420-1delinsT
XM_011542843.2:c.8585-3_8585-1delinsT (ATM)	XP_011541145.1:n.8585-3_8585-1delinsT
XM_011542844.3:c.7541-3_7541-1delinsT (ATM)	XP_011541146.1:n.7541-3_7541-1delinsT
XM_011542845.2:c.7277-3_7277-1delinsT (ATM)	XP_011541147.1:n.7277-3_7277-1delinsT
XM_017017247.1:c.904-6914_904-6912delinsA (C11orf65)	XP_016872736.1:n.904-6914_904-6912delinsA...
XM_017017789.2:c.8585-3_8585-1delinsT (ATM)	XP_016873278.1:n.8585-3_8585-1delinsT
XM_017017790.2:c.8585-3_8585-1delinsT (ATM)	XP_016873279.1:n.8585-3_8585-1delinsT
NM_001330368.2:c.641-38207_641-38205delinsA (C11orf65)	NP_001317297.1:n.641-38207_641-38205delin...
NM_001351110.2:c.695-11986_695-11984delinsA (C11orf65)	NP_001338039.1:n.695-11986_695-11984delin...
NM_001351834.2:c.8585-3_8585-1delinsT (ATM)	NP_001338763.1:n.8585-3_8585-1delinsT
NM_000051.4:c.8585-3_8585-1delinsT (ATM) MANE Select	NP_000042.3:n.8585-3_8585-1delinsT
NR_147053.3:n.2299+7637_2299+7639delinsA (C11orf65)