Canonical Allele Identifier: CA2615860059

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108316255-CATTCAGGGATACTCCTGAAGCAGAGGGATGCAAAAAAAAGAGAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108316265_108316311del , CM000673.2:g.108316265_108316311del	GRCh38
NC_000011.9:g.108186992_108187038del , CM000673.1:g.108186992_108187038del	GRCh37
NC_000011.8:g.107692202_107692248del	NCBI36
NG_009830.1:g.98434_98480del , LRG_135:g.98434_98480del
NG_054724.1:g.158531_158577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6198+152_6198+198del (ATM)	ENSP00000388058.2:n.6198+152_6198+198del
ENST00000713593.1:c.*5669+152_*5669+198del (ATM)	ENSP00000518889.1:n.*5669+152_*5669+198del
ENST00000278616.9:c.6198+152_6198+198del (ATM)	ENSP00000278616.4:n.6198+152_6198+198del
ENST00000525056.2:n.617+152_617+198del (ATM)
ENST00000682286.1:n.955+152_955+198del (ATM)
ENST00000682302.1:n.616+152_616+198del (ATM)
ENST00000683174.1:n.7682+152_7682+198del (ATM)
ENST00000683524.1:n.1422+152_1422+198del (ATM)
ENST00000684152.1:n.1912+152_1912+198del (ATM)
ENST00000527805.6:c.*1262+152_*1262+198del (ATM)	ENSP00000435747.2:n.*1262+152_*1262+198del
ENST00000675595.1:c.*1262+152_*1262+198del (ATM)	ENSP00000502563.1:n.*1262+152_*1262+198del
ENST00000675843.1:c.6198+152_6198+198del (ATM) MANE Select	ENSP00000501606.1:n.6198+152_6198+198del
ENST00000278616.8:c.6198+152_6198+198del (ATM)	ENSP00000278616.4:n.6198+152_6198+198del
ENST00000452508.6:c.6198+152_6198+198del (ATM)	ENSP00000388058.2:n.6198+152_6198+198del
ENST00000524792.5:n.2413+152_2413+198del (ATM)
ENST00000525729.5:c.641-7231_641-7185del (C11orf65)	ENSP00000433395.1:n.641-7231_641-7185del
ENST00000532765.1:n.515+152_515+198del (ATM)
ENST00000533690.5:n.1602+152_1602+198del (ATM)
NM_000051.3:c.6198+152_6198+198del , LRG_135t1:c.6198+152_6198+198del (ATM)	NP_000042.3:n.6198+152_6198+198del
XM_005271561.3:c.6198+152_6198+198del (ATM)	XP_005271618.2:n.6198+152_6198+198del
XM_005271562.3:c.6198+152_6198+198del (ATM)	XP_005271619.2:n.6198+152_6198+198del
XM_006718843.2:c.6198+152_6198+198del (ATM)	XP_006718906.1:n.6198+152_6198+198del
XM_006718845.1:c.2154+152_2154+198del (ATM)	XP_006718908.1:n.2154+152_2154+198del
XM_011542840.1:c.6198+152_6198+198del (ATM)	XP_011541142.1:n.6198+152_6198+198del
XM_011542841.1:c.6198+152_6198+198del (ATM)	XP_011541143.1:n.6198+152_6198+198del
XM_011542842.1:c.6033+152_6033+198del (ATM)	XP_011541144.1:n.6033+152_6033+198del
XM_011542843.1:c.6198+152_6198+198del (ATM)	XP_011541145.1:n.6198+152_6198+198del
XM_011542844.1:c.5154+152_5154+198del (ATM)	XP_011541146.1:n.5154+152_5154+198del
XM_011542845.1:c.4890+152_4890+198del (ATM)	XP_011541147.1:n.4890+152_4890+198del
XM_011542847.1:c.1269+152_1269+198del (ATM)	XP_011541149.1:n.1269+152_1269+198del
NM_001330368.1:c.641-7231_641-7185del (C11orf65)	NP_001317297.1:n.641-7231_641-7185del
NM_001351110.1:c.*39-7231_*39-7185del (C11orf65)	NP_001338039.1:n.*39-7231_*39-7185del
NM_001351834.1:c.6198+152_6198+198del (ATM)	NP_001338763.1:n.6198+152_6198+198del
XM_005271562.5:c.6198+152_6198+198del (ATM)	XP_005271619.2:n.6198+152_6198+198del
XM_006718843.4:c.6198+152_6198+198del (ATM)	XP_006718906.1:n.6198+152_6198+198del
XM_006718845.2:c.2154+152_2154+198del (ATM)	XP_006718908.1:n.2154+152_2154+198del
XM_011542840.3:c.6198+152_6198+198del (ATM)	XP_011541142.1:n.6198+152_6198+198del
XM_011542842.3:c.6033+152_6033+198del (ATM)	XP_011541144.1:n.6033+152_6033+198del
XM_011542843.2:c.6198+152_6198+198del (ATM)	XP_011541145.1:n.6198+152_6198+198del
XM_011542844.3:c.5154+152_5154+198del (ATM)	XP_011541146.1:n.5154+152_5154+198del
XM_011542845.2:c.4890+152_4890+198del (ATM)	XP_011541147.1:n.4890+152_4890+198del
XM_017017789.2:c.6198+152_6198+198del (ATM)	XP_016873278.1:n.6198+152_6198+198del
XM_017017790.2:c.6198+152_6198+198del (ATM)	XP_016873279.1:n.6198+152_6198+198del
XM_017017791.1:c.6198+152_6198+198del (ATM)	XP_016873280.1:n.6198+152_6198+198del
NM_001330368.2:c.641-7231_641-7185del (C11orf65)	NP_001317297.1:n.641-7231_641-7185del
NM_001351110.2:c.*39-7231_*39-7185del (C11orf65)	NP_001338039.1:n.*39-7231_*39-7185del
NM_001351834.2:c.6198+152_6198+198del (ATM)	NP_001338763.1:n.6198+152_6198+198del
NM_000051.4:c.6198+152_6198+198del (ATM) MANE Select	NP_000042.3:n.6198+152_6198+198del