Canonical Allele Identifier: CA942022546

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs2086536700
• gnomAD v3: 11-108333831-ACCT-A
• gnomAD v4: 11-108333831-ACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108333832_108333834del , CM000673.2:g.108333832_108333834del	GRCh38
NC_000011.9:g.108204559_108204561del , CM000673.1:g.108204559_108204561del	GRCh37
NC_000011.8:g.107709769_107709771del	NCBI36
NG_009830.1:g.116001_116003del , LRG_135:g.116001_116003del
NG_054724.1:g.140999_141001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7928-54_7928-52del (ATM)	ENSP00000388058.2:n.7928-54_7928-52del
ENST00000713593.1:c.*7399-54_*7399-52del (ATM)	ENSP00000518889.1:n.*7399-54_*7399-52del
ENST00000278616.9:c.7928-54_7928-52del (ATM)	ENSP00000278616.4:n.7928-54_7928-52del
ENST00000525056.2:n.2347-54_2347-52del (ATM)
ENST00000638786.2:n.626-54_626-52del (ATM)
ENST00000682286.1:n.2685-54_2685-52del (ATM)
ENST00000682302.1:n.2346-54_2346-52del (ATM)
ENST00000683174.1:n.9412-54_9412-52del (ATM)
ENST00000683524.1:n.3152-54_3152-52del (ATM)
ENST00000684152.1:n.3344-54_3344-52del (ATM)
ENST00000684180.1:n.402-54_402-52del (ATM)
ENST00000684447.1:n.4367_4369del (ATM)
ENST00000527805.6:c.*2992-54_*2992-52del (ATM)	ENSP00000435747.2:n.*2992-54_*2992-52del
ENST00000675595.1:c.*3063-54_*3063-52del (ATM)	ENSP00000502563.1:n.*3063-54_*3063-52del
ENST00000675843.1:c.7928-54_7928-52del (ATM) MANE Select	ENSP00000501606.1:n.7928-54_7928-52del
ENST00000278616.8:c.7928-54_7928-52del (ATM)	ENSP00000278616.4:n.7928-54_7928-52del
ENST00000452508.6:c.7928-54_7928-52del (ATM)	ENSP00000388058.2:n.7928-54_7928-52del
ENST00000524755.5:c.299+1386_299+1388del (C11orf65)
ENST00000524792.5:n.4143-54_4143-52del (ATM)
ENST00000525056.1:n.125-54_125-52del (ATM)
ENST00000525729.5:c.641-24763_641-24761del (C11orf65)	ENSP00000433395.1:n.641-24763_641-24761del
ENST00000527531.5:c.*1269+1386_*1269+1388del (C11orf65)	ENSP00000431706.1:n.*1269+1386_*1269+1388del
ENST00000533690.5:n.3332-54_3332-52del (ATM)
ENST00000533979.5:n.140-54_140-52del (ATM)
ENST00000615746.4:c.*1269+1386_*1269+1388del (C11orf65)	ENSP00000483537.1:n.*1269+1386_*1269+1388del
NM_000051.3:c.7928-54_7928-52del , LRG_135t1:c.7928-54_7928-52del (ATM)	NP_000042.3:n.7928-54_7928-52del
XM_005271414.3:c.*38+1386_*38+1388del (C11orf65)	XP_005271471.1:n.*38+1386_*38+1388del
XM_005271415.3:c.804+1386_804+1388del (C11orf65)	XP_005271472.1:n.804+1386_804+1388del
XM_005271561.3:c.7928-54_7928-52del (ATM)	XP_005271618.2:n.7928-54_7928-52del
XM_005271562.3:c.7928-54_7928-52del (ATM)	XP_005271619.2:n.7928-54_7928-52del
XM_006718843.2:c.7928-54_7928-52del (ATM)	XP_006718906.1:n.7928-54_7928-52del
XM_006718845.1:c.3884-54_3884-52del (ATM)	XP_006718908.1:n.3884-54_3884-52del
XM_011542840.1:c.7928-54_7928-52del (ATM)	XP_011541142.1:n.7928-54_7928-52del
XM_011542841.1:c.7928-54_7928-52del (ATM)	XP_011541143.1:n.7928-54_7928-52del
XM_011542842.1:c.7763-54_7763-52del (ATM)	XP_011541144.1:n.7763-54_7763-52del
XM_011542843.1:c.7928-54_7928-52del (ATM)	XP_011541145.1:n.7928-54_7928-52del
XM_011542844.1:c.6884-54_6884-52del (ATM)	XP_011541146.1:n.6884-54_6884-52del
XM_011542845.1:c.6620-54_6620-52del (ATM)	XP_011541147.1:n.6620-54_6620-52del
XM_011542847.1:c.2999-54_2999-52del (ATM)	XP_011541149.1:n.2999-54_2999-52del
NM_001330368.1:c.641-24763_641-24761del (C11orf65)	NP_001317297.1:n.641-24763_641-24761del
NM_001351110.1:c.*38+1386_*38+1388del (C11orf65)	NP_001338039.1:n.*38+1386_*38+1388del
NM_001351834.1:c.7928-54_7928-52del (ATM)	NP_001338763.1:n.7928-54_7928-52del
NR_147053.2:n.2374+1386_2374+1388del (C11orf65)
XM_005271414.4:c.*38+1386_*38+1388del (C11orf65)	XP_005271471.1:n.*38+1386_*38+1388del
XM_005271415.4:c.804+1386_804+1388del (C11orf65)	XP_005271472.1:n.804+1386_804+1388del
XM_005271562.5:c.7928-54_7928-52del (ATM)	XP_005271619.2:n.7928-54_7928-52del
XM_006718843.4:c.7928-54_7928-52del (ATM)	XP_006718906.1:n.7928-54_7928-52del
XM_006718845.2:c.3884-54_3884-52del (ATM)	XP_006718908.1:n.3884-54_3884-52del
XM_011542840.3:c.7928-54_7928-52del (ATM)	XP_011541142.1:n.7928-54_7928-52del
XM_011542842.3:c.7763-54_7763-52del (ATM)	XP_011541144.1:n.7763-54_7763-52del
XM_011542843.2:c.7928-54_7928-52del (ATM)	XP_011541145.1:n.7928-54_7928-52del
XM_011542844.3:c.6884-54_6884-52del (ATM)	XP_011541146.1:n.6884-54_6884-52del
XM_011542845.2:c.6620-54_6620-52del (ATM)	XP_011541147.1:n.6620-54_6620-52del
XM_017017789.2:c.7928-54_7928-52del (ATM)	XP_016873278.1:n.7928-54_7928-52del
XM_017017790.2:c.7928-54_7928-52del (ATM)	XP_016873279.1:n.7928-54_7928-52del
NM_001330368.2:c.641-24763_641-24761del (C11orf65)	NP_001317297.1:n.641-24763_641-24761del
NM_001351110.2:c.*38+1386_*38+1388del (C11orf65)	NP_001338039.1:n.*38+1386_*38+1388del
NM_001351834.2:c.7928-54_7928-52del (ATM)	NP_001338763.1:n.7928-54_7928-52del
NM_000051.4:c.7928-54_7928-52del (ATM) MANE Select	NP_000042.3:n.7928-54_7928-52del
NR_147053.3:n.2372+1386_2372+1388del (C11orf65)