Canonical Allele Identifier: CA2695215486

Gene: ATM C11orf65

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329081del , CM000673.2:g.108329081del	GRCh38
NC_000011.9:g.108199808del , CM000673.1:g.108199808del	GRCh37
NC_000011.8:g.107705018del	NCBI36
NG_009830.1:g.111250del , LRG_135:g.111250del
NG_054724.1:g.145756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7150del (ATM)	ENSP00000388058.2:p.Met2384Ter
ENST00000713593.1:c.*6621del (ATM)	ENSP00000518889.1:n.*6621del
ENST00000278616.9:c.7150del (ATM)	ENSP00000278616.4:p.Met2384Ter
ENST00000525056.2:n.1569del (ATM)
ENST00000525537.3:n.107del (ATM)
ENST00000682286.1:n.1907del (ATM)
ENST00000682302.1:n.1568del (ATM)
ENST00000683174.1:n.8634del (ATM)
ENST00000683524.1:n.2374del (ATM)
ENST00000684152.1:n.2864del (ATM)
ENST00000684447.1:n.1613del (ATM)
ENST00000527805.6:c.*2214del (ATM)	ENSP00000435747.2:n.*2214del
ENST00000675595.1:c.*2285del (ATM)	ENSP00000502563.1:n.*2285del
ENST00000675843.1:c.7150del (ATM) MANE Select	ENSP00000501606.1:p.Met2384Ter
ENST00000278616.8:c.7150del (ATM)	ENSP00000278616.4:p.Met2384Ter
ENST00000452508.6:c.7150del (ATM)	ENSP00000388058.2:p.Met2384Ter
ENST00000524792.5:n.3365del (ATM)
ENST00000525537.2:n.426del (ATM)
ENST00000525729.5:c.641-20006del (C11orf65)	ENSP00000433395.1:n.641-20006del
ENST00000527389.2:n.175del (ATM)
ENST00000533690.5:n.2554del (ATM)
NM_000051.3:c.7150del , LRG_135t1:c.7150del (ATM)	NP_000042.3:p.Met2384Ter
XM_005271561.3:c.7150del (ATM)	XP_005271618.2:p.Met2384Ter
XM_005271562.3:c.7150del (ATM)	XP_005271619.2:p.Met2384Ter
XM_006718843.2:c.7150del (ATM)	XP_006718906.1:p.Met2384Ter
XM_006718845.1:c.3106del (ATM)	XP_006718908.1:p.Met1036Ter
XM_011542840.1:c.7150del (ATM)	XP_011541142.1:p.Met2384Ter
XM_011542841.1:c.7150del (ATM)	XP_011541143.1:p.Met2384Ter
XM_011542842.1:c.6985del (ATM)	XP_011541144.1:p.Met2329Ter
XM_011542843.1:c.7150del (ATM)	XP_011541145.1:p.Met2384Ter
XM_011542844.1:c.6106del (ATM)	XP_011541146.1:p.Met2036Ter
XM_011542845.1:c.5842del (ATM)	XP_011541147.1:p.Met1948Ter
XM_011542847.1:c.2221del (ATM)	XP_011541149.1:p.Met741Ter
NM_001330368.1:c.641-20006del (C11orf65)	NP_001317297.1:n.641-20006del
NM_001351110.1:c.*38+6143del (C11orf65)	NP_001338039.1:n.*38+6143del
NM_001351834.1:c.7150del (ATM)	NP_001338763.1:p.Met2384Ter
XM_005271562.5:c.7150del (ATM)	XP_005271619.2:p.Met2384Ter
XM_006718843.4:c.7150del (ATM)	XP_006718906.1:p.Met2384Ter
XM_006718845.2:c.3106del (ATM)	XP_006718908.1:p.Met1036Ter
XM_011542840.3:c.7150del (ATM)	XP_011541142.1:p.Met2384Ter
XM_011542842.3:c.6985del (ATM)	XP_011541144.1:p.Met2329Ter
XM_011542843.2:c.7150del (ATM)	XP_011541145.1:p.Met2384Ter
XM_011542844.3:c.6106del (ATM)	XP_011541146.1:p.Met2036Ter
XM_011542845.2:c.5842del (ATM)	XP_011541147.1:p.Met1948Ter
XM_017017789.2:c.7150del (ATM)	XP_016873278.1:p.Met2384Ter
XM_017017790.2:c.7150del (ATM)	XP_016873279.1:p.Met2384Ter
NM_001330368.2:c.641-20006del (C11orf65)	NP_001317297.1:n.641-20006del
NM_001351110.2:c.*38+6143del (C11orf65)	NP_001338039.1:n.*38+6143del
NM_001351834.2:c.7150del (ATM)	NP_001338763.1:p.Met2384Ter
NM_000051.4:c.7150del (ATM) MANE Select	NP_000042.3:p.Met2384Ter