Canonical Allele Identifier: CA1998807825

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325464_108325466delinsCAA , CM000673.2:g.108325464_108325466delinsCAA	GRCh38
NC_000011.9:g.108196191_108196193delinsCAA , CM000673.1:g.108196191_108196193delinsCAA	GRCh37
NC_000011.8:g.107701401_107701403delinsCAA	NCBI36
NG_009830.1:g.107633_107635delinsCAA , LRG_135:g.107633_107635delinsCAA
NG_054724.1:g.149367_149369delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6727_6729delinsCAA (ATM)	ENSP00000388058.2:p.Gln2243=
ENST00000713593.1:c.*6198_*6200delinsCAA (ATM)	ENSP00000518889.1:n.*6198_*6200delinsCAA
ENST00000278616.9:c.6727_6729delinsCAA (ATM)	ENSP00000278616.4:p.Gln2243=
ENST00000525056.2:n.1146_1148delinsCAA (ATM)
ENST00000682286.1:n.1484_1486delinsCAA (ATM)
ENST00000682302.1:n.1145_1147delinsCAA (ATM)
ENST00000683174.1:n.8211_8213delinsCAA (ATM)
ENST00000683524.1:n.1951_1953delinsCAA (ATM)
ENST00000684152.1:n.2441_2443delinsCAA (ATM)
ENST00000527805.6:c.*1791_*1793delinsCAA (ATM)	ENSP00000435747.2:n.*1791_*1793delinsCAA
ENST00000675595.1:c.*1862_*1864delinsCAA (ATM)	ENSP00000502563.1:n.*1862_*1864delinsCAA
ENST00000675843.1:c.6727_6729delinsCAA (ATM) MANE Select	ENSP00000501606.1:p.Gln2243=
ENST00000278616.8:c.6727_6729delinsCAA (ATM)	ENSP00000278616.4:p.Gln2243=
ENST00000452508.6:c.6727_6729delinsCAA (ATM)	ENSP00000388058.2:p.Gln2243=
ENST00000524792.5:n.2942_2944delinsCAA (ATM)
ENST00000525729.5:c.641-16395_641-16393delinsTTG (C11orf65)	ENSP00000433395.1:n.641-16395_641-16393delinsTTG
ENST00000533690.5:n.2131_2133delinsCAA (ATM)
NM_000051.3:c.6727_6729delinsCAA , LRG_135t1:c.6727_6729delinsCAA (ATM)	NP_000042.3:p.Gln2243=
XM_005271561.3:c.6727_6729delinsCAA (ATM)	XP_005271618.2:p.Gln2243=
XM_005271562.3:c.6727_6729delinsCAA (ATM)	XP_005271619.2:p.Gln2243=
XM_006718843.2:c.6727_6729delinsCAA (ATM)	XP_006718906.1:p.Gln2243=
XM_006718845.1:c.2683_2685delinsCAA (ATM)	XP_006718908.1:p.Gln895=
XM_011542840.1:c.6727_6729delinsCAA (ATM)	XP_011541142.1:p.Gln2243=
XM_011542841.1:c.6727_6729delinsCAA (ATM)	XP_011541143.1:p.Gln2243=
XM_011542842.1:c.6562_6564delinsCAA (ATM)	XP_011541144.1:p.Gln2188=
XM_011542843.1:c.6727_6729delinsCAA (ATM)	XP_011541145.1:p.Gln2243=
XM_011542844.1:c.5683_5685delinsCAA (ATM)	XP_011541146.1:p.Gln1895=
XM_011542845.1:c.5419_5421delinsCAA (ATM)	XP_011541147.1:p.Gln1807=
XM_011542847.1:c.1798_1800delinsCAA (ATM)	XP_011541149.1:p.Gln600=
NM_001330368.1:c.641-16395_641-16393delinsTTG (C11orf65)	NP_001317297.1:n.641-16395_641-16393delinsTTG
NM_001351110.1:c.*38+9754_*38+9756delinsTTG (C11orf65)	NP_001338039.1:n.*38+9754_*38+9756delinsTTG
NM_001351834.1:c.6727_6729delinsCAA (ATM)	NP_001338763.1:p.Gln2243=
XM_005271562.5:c.6727_6729delinsCAA (ATM)	XP_005271619.2:p.Gln2243=
XM_006718843.4:c.6727_6729delinsCAA (ATM)	XP_006718906.1:p.Gln2243=
XM_006718845.2:c.2683_2685delinsCAA (ATM)	XP_006718908.1:p.Gln895=
XM_011542840.3:c.6727_6729delinsCAA (ATM)	XP_011541142.1:p.Gln2243=
XM_011542842.3:c.6562_6564delinsCAA (ATM)	XP_011541144.1:p.Gln2188=
XM_011542843.2:c.6727_6729delinsCAA (ATM)	XP_011541145.1:p.Gln2243=
XM_011542844.3:c.5683_5685delinsCAA (ATM)	XP_011541146.1:p.Gln1895=
XM_011542845.2:c.5419_5421delinsCAA (ATM)	XP_011541147.1:p.Gln1807=
XM_017017789.2:c.6727_6729delinsCAA (ATM)	XP_016873278.1:p.Gln2243=
XM_017017790.2:c.6727_6729delinsCAA (ATM)	XP_016873279.1:p.Gln2243=
NM_001330368.2:c.641-16395_641-16393delinsTTG (C11orf65)	NP_001317297.1:n.641-16395_641-16393delinsTTG
NM_001351110.2:c.*38+9754_*38+9756delinsTTG (C11orf65)	NP_001338039.1:n.*38+9754_*38+9756delinsTTG
NM_001351834.2:c.6727_6729delinsCAA (ATM)	NP_001338763.1:p.Gln2243=
NM_000051.4:c.6727_6729delinsCAA (ATM) MANE Select	NP_000042.3:p.Gln2243=