Canonical Allele Identifier: CA1998817773

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2088524244
• gnomAD v4: 11-108347178-TAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108347179_108347181del , CM000673.2:g.108347179_108347181del	GRCh38
NC_000011.9:g.108217906_108217908del , CM000673.1:g.108217906_108217908del	GRCh37
NC_000011.8:g.107723116_107723118del	NCBI36
NG_009830.1:g.129348_129350del , LRG_135:g.129348_129350del
NG_054724.1:g.127652_127654del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8585-100_8585-98del (ATM)	ENSP00000388058.2:n.8585-100_8585-98del
ENST00000713593.1:c.*8056-100_*8056-98del (ATM)	ENSP00000518889.1:n.*8056-100_*8056-98del
ENST00000278616.9:c.8585-100_8585-98del (ATM)	ENSP00000278616.4:n.8585-100_8585-98del
ENST00000638786.2:n.1283-100_1283-98del (ATM)
ENST00000682286.1:n.3342-100_3342-98del (ATM)
ENST00000682302.1:n.3003-100_3003-98del (ATM)
ENST00000683174.1:n.10069-100_10069-98del (ATM)
ENST00000683524.1:n.3809-100_3809-98del (ATM)
ENST00000684152.1:n.4001-100_4001-98del (ATM)
ENST00000684180.1:n.1059-100_1059-98del (ATM)
ENST00000684447.1:n.5078-100_5078-98del (ATM)
ENST00000527805.6:c.*3649-100_*3649-98del (ATM)	ENSP00000435747.2:n.*3649-100_*3649-98del
ENST00000675595.1:c.*3720-100_*3720-98del (ATM)	ENSP00000502563.1:n.*3720-100_*3720-98del
ENST00000675843.1:c.8585-100_8585-98del (ATM) MANE Select	ENSP00000501606.1:n.8585-100_8585-98del
ENST00000278616.8:c.8585-100_8585-98del (ATM)	ENSP00000278616.4:n.8585-100_8585-98del
ENST00000452508.6:c.8585-100_8585-98del (ATM)	ENSP00000388058.2:n.8585-100_8585-98del
ENST00000524755.5:c.227-11889_227-11887del (C11orf65)
ENST00000524792.5:n.4800-100_4800-98del (ATM)
ENST00000525178.5:n.73-100_73-98del (ATM)
ENST00000525729.5:c.641-38110_641-38108del (C11orf65)	ENSP00000433395.1:n.641-38110_641-38108del
ENST00000526725.1:n.272-6817_272-6815del (C11orf65)
ENST00000527531.5:c.*1196+7734_*1196+7736del (C11orf65)	ENSP00000431706.1:n.*1196+7734_*1196+7736del
ENST00000615746.4:c.*1196+7734_*1196+7736del (C11orf65)	ENSP00000483537.1:n.*1196+7734_*1196+7736del
NM_000051.3:c.8585-100_8585-98del , LRG_135t1:c.8585-100_8585-98del (ATM)	NP_000042.3:n.8585-100_8585-98del
XM_005271414.3:c.788-11889_788-11887del (C11orf65)	XP_005271471.1:n.788-11889_788-11887del
XM_005271415.3:c.732-11889_732-11887del (C11orf65)	XP_005271472.1:n.732-11889_732-11887del
XM_005271561.3:c.8585-100_8585-98del (ATM)	XP_005271618.2:n.8585-100_8585-98del
XM_005271562.3:c.8585-100_8585-98del (ATM)	XP_005271619.2:n.8585-100_8585-98del
XM_006718843.2:c.8585-100_8585-98del (ATM)	XP_006718906.1:n.8585-100_8585-98del
XM_006718845.1:c.4541-100_4541-98del (ATM)	XP_006718908.1:n.4541-100_4541-98del
XM_011542640.1:c.788-6817_788-6815del (C11orf65)	XP_011540942.1:n.788-6817_788-6815del
XM_011542643.1:c.732-6817_732-6815del (C11orf65)	XP_011540945.1:n.732-6817_732-6815del
XM_011542840.1:c.8585-100_8585-98del (ATM)	XP_011541142.1:n.8585-100_8585-98del
XM_011542841.1:c.8585-100_8585-98del (ATM)	XP_011541143.1:n.8585-100_8585-98del
XM_011542842.1:c.8420-100_8420-98del (ATM)	XP_011541144.1:n.8420-100_8420-98del
XM_011542843.1:c.8585-100_8585-98del (ATM)	XP_011541145.1:n.8585-100_8585-98del
XM_011542844.1:c.7541-100_7541-98del (ATM)	XP_011541146.1:n.7541-100_7541-98del
XM_011542845.1:c.7277-100_7277-98del (ATM)	XP_011541147.1:n.7277-100_7277-98del
XM_011542847.1:c.3656-100_3656-98del (ATM)	XP_011541149.1:n.3656-100_3656-98del
NM_001330368.1:c.641-38110_641-38108del (C11orf65)	NP_001317297.1:n.641-38110_641-38108del
NM_001351110.1:c.695-11889_695-11887del (C11orf65)	NP_001338039.1:n.695-11889_695-11887del
NM_001351834.1:c.8585-100_8585-98del (ATM)	NP_001338763.1:n.8585-100_8585-98del
NR_147053.2:n.2301+7734_2301+7736del (C11orf65)
XM_005271414.4:c.788-11889_788-11887del (C11orf65)	XP_005271471.1:n.788-11889_788-11887del
XM_005271415.4:c.732-11889_732-11887del (C11orf65)	XP_005271472.1:n.732-11889_732-11887del
XM_005271562.5:c.8585-100_8585-98del (ATM)	XP_005271619.2:n.8585-100_8585-98del
XM_006718843.4:c.8585-100_8585-98del (ATM)	XP_006718906.1:n.8585-100_8585-98del
XM_006718845.2:c.4541-100_4541-98del (ATM)	XP_006718908.1:n.4541-100_4541-98del
XM_011542640.2:c.788-6817_788-6815del (C11orf65)	XP_011540942.1:n.788-6817_788-6815del
XM_011542643.2:c.732-6817_732-6815del (C11orf65)	XP_011540945.1:n.732-6817_732-6815del
XM_011542840.3:c.8585-100_8585-98del (ATM)	XP_011541142.1:n.8585-100_8585-98del
XM_011542842.3:c.8420-100_8420-98del (ATM)	XP_011541144.1:n.8420-100_8420-98del
XM_011542843.2:c.8585-100_8585-98del (ATM)	XP_011541145.1:n.8585-100_8585-98del
XM_011542844.3:c.7541-100_7541-98del (ATM)	XP_011541146.1:n.7541-100_7541-98del
XM_011542845.2:c.7277-100_7277-98del (ATM)	XP_011541147.1:n.7277-100_7277-98del
XM_017017247.1:c.904-6817_904-6815del (C11orf65)	XP_016872736.1:n.904-6817_904-6815del
XM_017017789.2:c.8585-100_8585-98del (ATM)	XP_016873278.1:n.8585-100_8585-98del
XM_017017790.2:c.8585-100_8585-98del (ATM)	XP_016873279.1:n.8585-100_8585-98del
NM_001330368.2:c.641-38110_641-38108del (C11orf65)	NP_001317297.1:n.641-38110_641-38108del
NM_001351110.2:c.695-11889_695-11887del (C11orf65)	NP_001338039.1:n.695-11889_695-11887del
NM_001351834.2:c.8585-100_8585-98del (ATM)	NP_001338763.1:n.8585-100_8585-98del
NM_000051.4:c.8585-100_8585-98del (ATM) MANE Select	NP_000042.3:n.8585-100_8585-98del
NR_147053.3:n.2299+7734_2299+7736del (C11orf65)