Canonical Allele Identifier: CA942027738

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2089676092
• gnomAD v3: 11-108354748-TAA-T
• gnomAD v4: 11-108354748-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354750_108354751del , CM000673.2:g.108354750_108354751del	GRCh38
NC_000011.9:g.108225477_108225478del , CM000673.1:g.108225477_108225478del	GRCh37
NC_000011.8:g.107730687_107730688del	NCBI36
NG_009830.1:g.136919_136920del , LRG_135:g.136919_136920del
NG_054724.1:g.120083_120084del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8787-61_8787-60del (ATM)	ENSP00000388058.2:n.8787-61_8787-60del
ENST00000713593.1:c.*8258-61_*8258-60del (ATM)	ENSP00000518889.1:n.*8258-61_*8258-60del
ENST00000278616.9:c.8787-61_8787-60del (ATM)	ENSP00000278616.4:n.8787-61_8787-60del
ENST00000638786.2:n.1485-61_1485-60del (ATM)
ENST00000682286.1:n.3544-61_3544-60del (ATM)
ENST00000682302.1:n.3205-61_3205-60del (ATM)
ENST00000683174.1:n.10271-61_10271-60del (ATM)
ENST00000683524.1:n.4011-61_4011-60del (ATM)
ENST00000684152.1:n.4203-61_4203-60del (ATM)
ENST00000684180.1:n.1261-61_1261-60del (ATM)
ENST00000684447.1:n.5280-61_5280-60del (ATM)
ENST00000527805.6:c.*3851-61_*3851-60del (ATM)	ENSP00000435747.2:n.*3851-61_*3851-60del
ENST00000675595.1:c.*3922-61_*3922-60del (ATM)	ENSP00000502563.1:n.*3922-61_*3922-60del
ENST00000675843.1:c.8787-61_8787-60del (ATM) MANE Select	ENSP00000501606.1:n.8787-61_8787-60del
ENST00000278616.8:c.8787-61_8787-60del (ATM)	ENSP00000278616.4:n.8787-61_8787-60del
ENST00000452508.6:c.8787-61_8787-60del (ATM)	ENSP00000388058.2:n.8787-61_8787-60del
ENST00000524755.5:c.227-19458_227-19457del (C11orf65)
ENST00000524792.5:n.5002-61_5002-60del (ATM)
ENST00000525178.5:n.275-61_275-60del (ATM)
ENST00000525729.5:c.640+31170_640+31171del (C11orf65)	ENSP00000433395.1:n.640+31170_640+31171del
ENST00000526725.1:n.272-14386_272-14385del (C11orf65)
ENST00000527181.1:n.126-61_126-60del (ATM)
ENST00000527531.5:c.*1196+165_*1196+166del (C11orf65)	ENSP00000431706.1:n.*1196+165_*1196+166del
ENST00000615746.4:c.*1196+165_*1196+166del (C11orf65)	ENSP00000483537.1:n.*1196+165_*1196+166del
NM_000051.3:c.8787-61_8787-60del , LRG_135t1:c.8787-61_8787-60del (ATM)	NP_000042.3:n.8787-61_8787-60del
XM_005271414.3:c.788-19458_788-19457del (C11orf65)	XP_005271471.1:n.788-19458_788-19457del
XM_005271415.3:c.732-19458_732-19457del (C11orf65)	XP_005271472.1:n.732-19458_732-19457del
XM_005271561.3:c.8787-61_8787-60del (ATM)	XP_005271618.2:n.8787-61_8787-60del
XM_005271562.3:c.8787-61_8787-60del (ATM)	XP_005271619.2:n.8787-61_8787-60del
XM_006718843.2:c.8787-61_8787-60del (ATM)	XP_006718906.1:n.8787-61_8787-60del
XM_006718845.1:c.4743-61_4743-60del (ATM)	XP_006718908.1:n.4743-61_4743-60del
XM_011542640.1:c.788-14386_788-14385del (C11orf65)	XP_011540942.1:n.788-14386_788-14385del
XM_011542642.1:c.732-5677_732-5676del (C11orf65)	XP_011540944.1:n.732-5677_732-5676del
XM_011542643.1:c.732-14386_732-14385del (C11orf65)	XP_011540945.1:n.732-14386_732-14385del
XM_011542840.1:c.8787-61_8787-60del (ATM)	XP_011541142.1:n.8787-61_8787-60del
XM_011542841.1:c.8787-61_8787-60del (ATM)	XP_011541143.1:n.8787-61_8787-60del
XM_011542842.1:c.8622-61_8622-60del (ATM)	XP_011541144.1:n.8622-61_8622-60del
XM_011542844.1:c.7743-61_7743-60del (ATM)	XP_011541146.1:n.7743-61_7743-60del
XM_011542845.1:c.7479-61_7479-60del (ATM)	XP_011541147.1:n.7479-61_7479-60del
XM_011542847.1:c.3858-61_3858-60del (ATM)	XP_011541149.1:n.3858-61_3858-60del
NM_001330368.1:c.640+31170_640+31171del (C11orf65)	NP_001317297.1:n.640+31170_640+31171del
NM_001351110.1:c.695-19458_695-19457del (C11orf65)	NP_001338039.1:n.695-19458_695-19457del
NM_001351834.1:c.8787-61_8787-60del (ATM)	NP_001338763.1:n.8787-61_8787-60del
NR_147053.2:n.2301+165_2301+166del (C11orf65)
XM_005271414.4:c.788-19458_788-19457del (C11orf65)	XP_005271471.1:n.788-19458_788-19457del
XM_005271415.4:c.732-19458_732-19457del (C11orf65)	XP_005271472.1:n.732-19458_732-19457del
XM_005271562.5:c.8787-61_8787-60del (ATM)	XP_005271619.2:n.8787-61_8787-60del
XM_006718843.4:c.8787-61_8787-60del (ATM)	XP_006718906.1:n.8787-61_8787-60del
XM_006718845.2:c.4743-61_4743-60del (ATM)	XP_006718908.1:n.4743-61_4743-60del
XM_011542640.2:c.788-14386_788-14385del (C11orf65)	XP_011540942.1:n.788-14386_788-14385del
XM_011542643.2:c.732-14386_732-14385del (C11orf65)	XP_011540945.1:n.732-14386_732-14385del
XM_011542840.3:c.8787-61_8787-60del (ATM)	XP_011541142.1:n.8787-61_8787-60del
XM_011542842.3:c.8622-61_8622-60del (ATM)	XP_011541144.1:n.8622-61_8622-60del
XM_011542844.3:c.7743-61_7743-60del (ATM)	XP_011541146.1:n.7743-61_7743-60del
XM_011542845.2:c.7479-61_7479-60del (ATM)	XP_011541147.1:n.7479-61_7479-60del
XM_017017247.1:c.904-14386_904-14385del (C11orf65)	XP_016872736.1:n.904-14386_904-14385del
XM_017017789.2:c.8787-61_8787-60del (ATM)	XP_016873278.1:n.8787-61_8787-60del
XM_017017790.2:c.8787-61_8787-60del (ATM)	XP_016873279.1:n.8787-61_8787-60del
NM_001330368.2:c.640+31170_640+31171del (C11orf65)	NP_001317297.1:n.640+31170_640+31171del
NM_001351110.2:c.695-19458_695-19457del (C11orf65)	NP_001338039.1:n.695-19458_695-19457del
NM_001351834.2:c.8787-61_8787-60del (ATM)	NP_001338763.1:n.8787-61_8787-60del
NM_000051.4:c.8787-61_8787-60del (ATM) MANE Select	NP_000042.3:n.8787-61_8787-60del
NR_147053.3:n.2299+165_2299+166del (C11orf65)