Canonical Allele Identifier: CA2615860968

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108331373-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108331373C>G , CM000673.2:g.108331373C>G	GRCh38
NC_000011.9:g.108202100C>G , CM000673.1:g.108202100C>G	GRCh37
NC_000011.8:g.107707310C>G	NCBI36
NG_009830.1:g.113542C>G , LRG_135:g.113542C>G
NG_054724.1:g.143460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7516-71C>G (ATM)	ENSP00000388058.2:n.7516-71C>G
ENST00000713593.1:c.*6987-71C>G (ATM)	ENSP00000518889.1:n.*6987-71C>G
ENST00000278616.9:c.7516-71C>G (ATM)	ENSP00000278616.4:n.7516-71C>G
ENST00000525056.2:n.1935-71C>G (ATM)
ENST00000525537.3:n.473-71C>G (ATM)
ENST00000638786.2:n.353-71C>G (ATM)
ENST00000682286.1:n.2273-71C>G (ATM)
ENST00000682302.1:n.1934-71C>G (ATM)
ENST00000683174.1:n.9000-71C>G (ATM)
ENST00000683524.1:n.2740-71C>G (ATM)
ENST00000684152.1:n.3230-71C>G (ATM)
ENST00000684447.1:n.1979-71C>G (ATM)
ENST00000527805.6:c.*2580-71C>G (ATM)	ENSP00000435747.2:n.*2580-71C>G
ENST00000675595.1:c.*2651-71C>G (ATM)	ENSP00000502563.1:n.*2651-71C>G
ENST00000675843.1:c.7516-71C>G (ATM) MANE Select	ENSP00000501606.1:n.7516-71C>G
ENST00000278616.8:c.7516-71C>G (ATM)	ENSP00000278616.4:n.7516-71C>G
ENST00000452508.6:c.7516-71C>G (ATM)	ENSP00000388058.2:n.7516-71C>G
ENST00000524792.5:n.3731-71C>G (ATM)
ENST00000525729.5:c.641-22302G>C (C11orf65)	ENSP00000433395.1:n.641-22302G>C
ENST00000527531.5:c.*1464G>C (C11orf65)	ENSP00000431706.1:n.*1464G>C
ENST00000533690.5:n.2920-71C>G (ATM)
ENST00000615746.4:c.*1464G>C (C11orf65)	ENSP00000483537.1:n.*1464G>C
NM_000051.3:c.7516-71C>G , LRG_135t1:c.7516-71C>G (ATM)	NP_000042.3:n.7516-71C>G
XM_005271561.3:c.7516-71C>G (ATM)	XP_005271618.2:n.7516-71C>G
XM_005271562.3:c.7516-71C>G (ATM)	XP_005271619.2:n.7516-71C>G
XM_006718843.2:c.7516-71C>G (ATM)	XP_006718906.1:n.7516-71C>G
XM_006718845.1:c.3472-71C>G (ATM)	XP_006718908.1:n.3472-71C>G
XM_011542840.1:c.7516-71C>G (ATM)	XP_011541142.1:n.7516-71C>G
XM_011542841.1:c.7516-71C>G (ATM)	XP_011541143.1:n.7516-71C>G
XM_011542842.1:c.7351-71C>G (ATM)	XP_011541144.1:n.7351-71C>G
XM_011542843.1:c.7516-71C>G (ATM)	XP_011541145.1:n.7516-71C>G
XM_011542844.1:c.6472-71C>G (ATM)	XP_011541146.1:n.6472-71C>G
XM_011542845.1:c.6208-71C>G (ATM)	XP_011541147.1:n.6208-71C>G
XM_011542847.1:c.2587-71C>G (ATM)	XP_011541149.1:n.2587-71C>G
NM_001330368.1:c.641-22302G>C (C11orf65)	NP_001317297.1:n.641-22302G>C
NM_001351110.1:c.*38+3847G>C (C11orf65)	NP_001338039.1:n.*38+3847G>C
NM_001351834.1:c.7516-71C>G (ATM)	NP_001338763.1:n.7516-71C>G
NR_147053.2:n.2569G>C (C11orf65)
XM_005271414.4:c.*233G>C (C11orf65)	XP_005271471.1:n.*233G>C
XM_005271415.4:c.*177G>C (C11orf65)	XP_005271472.1:n.*177G>C
XM_005271562.5:c.7516-71C>G (ATM)	XP_005271619.2:n.7516-71C>G
XM_006718843.4:c.7516-71C>G (ATM)	XP_006718906.1:n.7516-71C>G
XM_006718845.2:c.3472-71C>G (ATM)	XP_006718908.1:n.3472-71C>G
XM_011542840.3:c.7516-71C>G (ATM)	XP_011541142.1:n.7516-71C>G
XM_011542842.3:c.7351-71C>G (ATM)	XP_011541144.1:n.7351-71C>G
XM_011542843.2:c.7516-71C>G (ATM)	XP_011541145.1:n.7516-71C>G
XM_011542844.3:c.6472-71C>G (ATM)	XP_011541146.1:n.6472-71C>G
XM_011542845.2:c.6208-71C>G (ATM)	XP_011541147.1:n.6208-71C>G
XM_017017789.2:c.7516-71C>G (ATM)	XP_016873278.1:n.7516-71C>G
XM_017017790.2:c.7516-71C>G (ATM)	XP_016873279.1:n.7516-71C>G
NM_001330368.2:c.641-22302G>C (C11orf65)	NP_001317297.1:n.641-22302G>C
NM_001351110.2:c.*38+3847G>C (C11orf65)	NP_001338039.1:n.*38+3847G>C
NM_001351834.2:c.7516-71C>G (ATM)	NP_001338763.1:n.7516-71C>G
NM_000051.4:c.7516-71C>G (ATM) MANE Select	NP_000042.3:n.7516-71C>G
NR_147053.3:n.2567G>C (C11orf65)