Canonical Allele Identifier: CA1998810347

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108328702_108328704delinsTTG , CM000673.2:g.108328702_108328704delinsTTG	GRCh38
NC_000011.9:g.108199429_108199431delinsTTG , CM000673.1:g.108199429_108199431delinsTTG	GRCh37
NC_000011.8:g.107704639_107704641delinsTTG	NCBI36
NG_009830.1:g.110871_110873delinsTTG , LRG_135:g.110871_110873delinsTTG
NG_054724.1:g.146129_146131delinsCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7090-319_7090-317delinsTTG (ATM)	ENSP00000388058.2:n.7090-319_7090-317delinsTTG
ENST00000713593.1:c.*6561-319_*6561-317delinsTTG (ATM)	ENSP00000518889.1:n.*6561-319_*6561-317delinsTTG
ENST00000278616.9:c.7090-319_7090-317delinsTTG (ATM)	ENSP00000278616.4:n.7090-319_7090-317delinsTTG
ENST00000525056.2:n.1509-319_1509-317delinsTTG (ATM)
ENST00000525537.3:n.47-319_47-317delinsTTG (ATM)
ENST00000682286.1:n.1847-319_1847-317delinsTTG (ATM)
ENST00000682302.1:n.1508-319_1508-317delinsTTG (ATM)
ENST00000683174.1:n.8574-319_8574-317delinsTTG (ATM)
ENST00000683524.1:n.2314-319_2314-317delinsTTG (ATM)
ENST00000684152.1:n.2804-319_2804-317delinsTTG (ATM)
ENST00000684447.1:n.1553-319_1553-317delinsTTG (ATM)
ENST00000527805.6:c.*2154-319_*2154-317delinsTTG (ATM)	ENSP00000435747.2:n.*2154-319_*2154-317delinsTTG
ENST00000675595.1:c.*2225-319_*2225-317delinsTTG (ATM)	ENSP00000502563.1:n.*2225-319_*2225-317delinsTTG
ENST00000675843.1:c.7090-319_7090-317delinsTTG (ATM) MANE Select	ENSP00000501606.1:n.7090-319_7090-317delinsTTG
ENST00000278616.8:c.7090-319_7090-317delinsTTG (ATM)	ENSP00000278616.4:n.7090-319_7090-317delinsTTG
ENST00000452508.6:c.7090-319_7090-317delinsTTG (ATM)	ENSP00000388058.2:n.7090-319_7090-317delinsTTG
ENST00000524792.5:n.3305-319_3305-317delinsTTG (ATM)
ENST00000525537.2:n.366-319_366-317delinsTTG (ATM)
ENST00000525729.5:c.641-19633_641-19631delinsCAA (C11orf65)	ENSP00000433395.1:n.641-19633_641-19631delinsCAA
ENST00000527389.2:n.115-319_115-317delinsTTG (ATM)
ENST00000533690.5:n.2494-319_2494-317delinsTTG (ATM)
NM_000051.3:c.7090-319_7090-317delinsTTG , LRG_135t1:c.7090-319_7090-317delinsTTG (ATM)	NP_000042.3:n.7090-319_7090-317delinsTTG
XM_005271561.3:c.7090-319_7090-317delinsTTG (ATM)	XP_005271618.2:n.7090-319_7090-317delinsTTG
XM_005271562.3:c.7090-319_7090-317delinsTTG (ATM)	XP_005271619.2:n.7090-319_7090-317delinsTTG
XM_006718843.2:c.7090-319_7090-317delinsTTG (ATM)	XP_006718906.1:n.7090-319_7090-317delinsTTG
XM_006718845.1:c.3046-319_3046-317delinsTTG (ATM)	XP_006718908.1:n.3046-319_3046-317delinsTTG
XM_011542840.1:c.7090-319_7090-317delinsTTG (ATM)	XP_011541142.1:n.7090-319_7090-317delinsTTG
XM_011542841.1:c.7090-319_7090-317delinsTTG (ATM)	XP_011541143.1:n.7090-319_7090-317delinsTTG
XM_011542842.1:c.6925-319_6925-317delinsTTG (ATM)	XP_011541144.1:n.6925-319_6925-317delinsTTG
XM_011542843.1:c.7090-319_7090-317delinsTTG (ATM)	XP_011541145.1:n.7090-319_7090-317delinsTTG
XM_011542844.1:c.6046-319_6046-317delinsTTG (ATM)	XP_011541146.1:n.6046-319_6046-317delinsTTG
XM_011542845.1:c.5782-319_5782-317delinsTTG (ATM)	XP_011541147.1:n.5782-319_5782-317delinsTTG
XM_011542847.1:c.2161-319_2161-317delinsTTG (ATM)	XP_011541149.1:n.2161-319_2161-317delinsTTG
NM_001330368.1:c.641-19633_641-19631delinsCAA (C11orf65)	NP_001317297.1:n.641-19633_641-19631delinsCAA
NM_001351110.1:c.*38+6516_*38+6518delinsCAA (C11orf65)	NP_001338039.1:n.*38+6516_*38+6518delinsCAA
NM_001351834.1:c.7090-319_7090-317delinsTTG (ATM)	NP_001338763.1:n.7090-319_7090-317delinsTTG
XM_005271562.5:c.7090-319_7090-317delinsTTG (ATM)	XP_005271619.2:n.7090-319_7090-317delinsTTG
XM_006718843.4:c.7090-319_7090-317delinsTTG (ATM)	XP_006718906.1:n.7090-319_7090-317delinsTTG
XM_006718845.2:c.3046-319_3046-317delinsTTG (ATM)	XP_006718908.1:n.3046-319_3046-317delinsTTG
XM_011542840.3:c.7090-319_7090-317delinsTTG (ATM)	XP_011541142.1:n.7090-319_7090-317delinsTTG
XM_011542842.3:c.6925-319_6925-317delinsTTG (ATM)	XP_011541144.1:n.6925-319_6925-317delinsTTG
XM_011542843.2:c.7090-319_7090-317delinsTTG (ATM)	XP_011541145.1:n.7090-319_7090-317delinsTTG
XM_011542844.3:c.6046-319_6046-317delinsTTG (ATM)	XP_011541146.1:n.6046-319_6046-317delinsTTG
XM_011542845.2:c.5782-319_5782-317delinsTTG (ATM)	XP_011541147.1:n.5782-319_5782-317delinsTTG
XM_017017789.2:c.7090-319_7090-317delinsTTG (ATM)	XP_016873278.1:n.7090-319_7090-317delinsTTG
XM_017017790.2:c.7090-319_7090-317delinsTTG (ATM)	XP_016873279.1:n.7090-319_7090-317delinsTTG
NM_001330368.2:c.641-19633_641-19631delinsCAA (C11orf65)	NP_001317297.1:n.641-19633_641-19631delinsCAA
NM_001351110.2:c.*38+6516_*38+6518delinsCAA (C11orf65)	NP_001338039.1:n.*38+6516_*38+6518delinsCAA
NM_001351834.2:c.7090-319_7090-317delinsTTG (ATM)	NP_001338763.1:n.7090-319_7090-317delinsTTG
NM_000051.4:c.7090-319_7090-317delinsTTG (ATM) MANE Select	NP_000042.3:n.7090-319_7090-317delinsTTG