Canonical Allele Identifier: CA1998810393

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108328790_108328792delinsCAT , CM000673.2:g.108328790_108328792delinsCAT	GRCh38
NC_000011.9:g.108199517_108199519delinsCAT , CM000673.1:g.108199517_108199519delinsCAT	GRCh37
NC_000011.8:g.107704727_107704729delinsCAT	NCBI36
NG_009830.1:g.110959_110961delinsCAT , LRG_135:g.110959_110961delinsCAT
NG_054724.1:g.146041_146043delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7090-231_7090-229delinsCAT (ATM)	ENSP00000388058.2:n.7090-231_7090-229delinsCAT
ENST00000713593.1:c.*6561-231_*6561-229delinsCAT (ATM)	ENSP00000518889.1:n.*6561-231_*6561-229delinsCAT
ENST00000278616.9:c.7090-231_7090-229delinsCAT (ATM)	ENSP00000278616.4:n.7090-231_7090-229delinsCAT
ENST00000525056.2:n.1509-231_1509-229delinsCAT (ATM)
ENST00000525537.3:n.47-231_47-229delinsCAT (ATM)
ENST00000682286.1:n.1847-231_1847-229delinsCAT (ATM)
ENST00000682302.1:n.1508-231_1508-229delinsCAT (ATM)
ENST00000683174.1:n.8574-231_8574-229delinsCAT (ATM)
ENST00000683524.1:n.2314-231_2314-229delinsCAT (ATM)
ENST00000684152.1:n.2804-231_2804-229delinsCAT (ATM)
ENST00000684447.1:n.1553-231_1553-229delinsCAT (ATM)
ENST00000527805.6:c.*2154-231_*2154-229delinsCAT (ATM)	ENSP00000435747.2:n.*2154-231_*2154-229delinsCAT
ENST00000675595.1:c.*2225-231_*2225-229delinsCAT (ATM)	ENSP00000502563.1:n.*2225-231_*2225-229delinsCAT
ENST00000675843.1:c.7090-231_7090-229delinsCAT (ATM) MANE Select	ENSP00000501606.1:n.7090-231_7090-229delinsCAT
ENST00000278616.8:c.7090-231_7090-229delinsCAT (ATM)	ENSP00000278616.4:n.7090-231_7090-229delinsCAT
ENST00000452508.6:c.7090-231_7090-229delinsCAT (ATM)	ENSP00000388058.2:n.7090-231_7090-229delinsCAT
ENST00000524792.5:n.3305-231_3305-229delinsCAT (ATM)
ENST00000525537.2:n.366-231_366-229delinsCAT (ATM)
ENST00000525729.5:c.641-19721_641-19719delinsATG (C11orf65)	ENSP00000433395.1:n.641-19721_641-19719delinsATG
ENST00000527389.2:n.115-231_115-229delinsCAT (ATM)
ENST00000533690.5:n.2494-231_2494-229delinsCAT (ATM)
NM_000051.3:c.7090-231_7090-229delinsCAT , LRG_135t1:c.7090-231_7090-229delinsCAT (ATM)	NP_000042.3:n.7090-231_7090-229delinsCAT
XM_005271561.3:c.7090-231_7090-229delinsCAT (ATM)	XP_005271618.2:n.7090-231_7090-229delinsCAT
XM_005271562.3:c.7090-231_7090-229delinsCAT (ATM)	XP_005271619.2:n.7090-231_7090-229delinsCAT
XM_006718843.2:c.7090-231_7090-229delinsCAT (ATM)	XP_006718906.1:n.7090-231_7090-229delinsCAT
XM_006718845.1:c.3046-231_3046-229delinsCAT (ATM)	XP_006718908.1:n.3046-231_3046-229delinsCAT
XM_011542840.1:c.7090-231_7090-229delinsCAT (ATM)	XP_011541142.1:n.7090-231_7090-229delinsCAT
XM_011542841.1:c.7090-231_7090-229delinsCAT (ATM)	XP_011541143.1:n.7090-231_7090-229delinsCAT
XM_011542842.1:c.6925-231_6925-229delinsCAT (ATM)	XP_011541144.1:n.6925-231_6925-229delinsCAT
XM_011542843.1:c.7090-231_7090-229delinsCAT (ATM)	XP_011541145.1:n.7090-231_7090-229delinsCAT
XM_011542844.1:c.6046-231_6046-229delinsCAT (ATM)	XP_011541146.1:n.6046-231_6046-229delinsCAT
XM_011542845.1:c.5782-231_5782-229delinsCAT (ATM)	XP_011541147.1:n.5782-231_5782-229delinsCAT
XM_011542847.1:c.2161-231_2161-229delinsCAT (ATM)	XP_011541149.1:n.2161-231_2161-229delinsCAT
NM_001330368.1:c.641-19721_641-19719delinsATG (C11orf65)	NP_001317297.1:n.641-19721_641-19719delinsATG
NM_001351110.1:c.*38+6428_*38+6430delinsATG (C11orf65)	NP_001338039.1:n.*38+6428_*38+6430delinsATG
NM_001351834.1:c.7090-231_7090-229delinsCAT (ATM)	NP_001338763.1:n.7090-231_7090-229delinsCAT
XM_005271562.5:c.7090-231_7090-229delinsCAT (ATM)	XP_005271619.2:n.7090-231_7090-229delinsCAT
XM_006718843.4:c.7090-231_7090-229delinsCAT (ATM)	XP_006718906.1:n.7090-231_7090-229delinsCAT
XM_006718845.2:c.3046-231_3046-229delinsCAT (ATM)	XP_006718908.1:n.3046-231_3046-229delinsCAT
XM_011542840.3:c.7090-231_7090-229delinsCAT (ATM)	XP_011541142.1:n.7090-231_7090-229delinsCAT
XM_011542842.3:c.6925-231_6925-229delinsCAT (ATM)	XP_011541144.1:n.6925-231_6925-229delinsCAT
XM_011542843.2:c.7090-231_7090-229delinsCAT (ATM)	XP_011541145.1:n.7090-231_7090-229delinsCAT
XM_011542844.3:c.6046-231_6046-229delinsCAT (ATM)	XP_011541146.1:n.6046-231_6046-229delinsCAT
XM_011542845.2:c.5782-231_5782-229delinsCAT (ATM)	XP_011541147.1:n.5782-231_5782-229delinsCAT
XM_017017789.2:c.7090-231_7090-229delinsCAT (ATM)	XP_016873278.1:n.7090-231_7090-229delinsCAT
XM_017017790.2:c.7090-231_7090-229delinsCAT (ATM)	XP_016873279.1:n.7090-231_7090-229delinsCAT
NM_001330368.2:c.641-19721_641-19719delinsATG (C11orf65)	NP_001317297.1:n.641-19721_641-19719delinsATG
NM_001351110.2:c.*38+6428_*38+6430delinsATG (C11orf65)	NP_001338039.1:n.*38+6428_*38+6430delinsATG
NM_001351834.2:c.7090-231_7090-229delinsCAT (ATM)	NP_001338763.1:n.7090-231_7090-229delinsCAT
NM_000051.4:c.7090-231_7090-229delinsCAT (ATM) MANE Select	NP_000042.3:n.7090-231_7090-229delinsCAT