Canonical Allele Identifier: CA2580083039

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2025862
• ClinVar RCV Id: RCV002853472

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108325380_108325381del , CM000673.2:g.108325380_108325381del	GRCh38
NC_000011.9:g.108196107_108196108del , CM000673.1:g.108196107_108196108del	GRCh37
NC_000011.8:g.107701317_107701318del	NCBI36
NG_009830.1:g.107549_107550del , LRG_135:g.107549_107550del
NG_054724.1:g.149452_149453del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.6643_6644del (ATM)	ENSP00000388058.2:p.Ser2215Ter
ENST00000713593.1:c.*6114_*6115del (ATM)	ENSP00000518889.1:n.*6114_*6115del
ENST00000278616.9:c.6643_6644del (ATM)	ENSP00000278616.4:p.Ser2215Ter
ENST00000525056.2:n.1062_1063del (ATM)
ENST00000682286.1:n.1400_1401del (ATM)
ENST00000682302.1:n.1061_1062del (ATM)
ENST00000683174.1:n.8127_8128del (ATM)
ENST00000683524.1:n.1867_1868del (ATM)
ENST00000684152.1:n.2357_2358del (ATM)
ENST00000527805.6:c.*1707_*1708del (ATM)	ENSP00000435747.2:n.*1707_*1708del
ENST00000675595.1:c.*1778_*1779del (ATM)	ENSP00000502563.1:n.*1778_*1779del
ENST00000675843.1:c.6643_6644del (ATM) MANE Select	ENSP00000501606.1:p.Ser2215Ter
ENST00000278616.8:c.6643_6644del (ATM)	ENSP00000278616.4:p.Ser2215Ter
ENST00000452508.6:c.6643_6644del (ATM)	ENSP00000388058.2:p.Ser2215Ter
ENST00000524792.5:n.2858_2859del (ATM)
ENST00000525729.5:c.641-16310_641-16309del (C11orf65)	ENSP00000433395.1:n.641-16310_641-16309de...
ENST00000533690.5:n.2047_2048del (ATM)
NM_000051.3:c.6643_6644del , LRG_135t1:c.6643_6644del (ATM)	NP_000042.3:p.Ser2215Ter
XM_005271561.3:c.6643_6644del (ATM)	XP_005271618.2:p.Ser2215Ter
XM_005271562.3:c.6643_6644del (ATM)	XP_005271619.2:p.Ser2215Ter
XM_006718843.2:c.6643_6644del (ATM)	XP_006718906.1:p.Ser2215Ter
XM_006718845.1:c.2599_2600del (ATM)	XP_006718908.1:p.Ser867Ter
XM_011542840.1:c.6643_6644del (ATM)	XP_011541142.1:p.Ser2215Ter
XM_011542841.1:c.6643_6644del (ATM)	XP_011541143.1:p.Ser2215Ter
XM_011542842.1:c.6478_6479del (ATM)	XP_011541144.1:p.Ser2160Ter
XM_011542843.1:c.6643_6644del (ATM)	XP_011541145.1:p.Ser2215Ter
XM_011542844.1:c.5599_5600del (ATM)	XP_011541146.1:p.Ser1867Ter
XM_011542845.1:c.5335_5336del (ATM)	XP_011541147.1:p.Ser1779Ter
XM_011542847.1:c.1714_1715del (ATM)	XP_011541149.1:p.Ser572Ter
NM_001330368.1:c.641-16310_641-16309del (C11orf65)	NP_001317297.1:n.641-16310_641-16309del
NM_001351110.1:c.*38+9839_*38+9840del (C11orf65)	NP_001338039.1:n.*38+9839_*38+9840del
NM_001351834.1:c.6643_6644del (ATM)	NP_001338763.1:p.Ser2215Ter
XM_005271562.5:c.6643_6644del (ATM)	XP_005271619.2:p.Ser2215Ter
XM_006718843.4:c.6643_6644del (ATM)	XP_006718906.1:p.Ser2215Ter
XM_006718845.2:c.2599_2600del (ATM)	XP_006718908.1:p.Ser867Ter
XM_011542840.3:c.6643_6644del (ATM)	XP_011541142.1:p.Ser2215Ter
XM_011542842.3:c.6478_6479del (ATM)	XP_011541144.1:p.Ser2160Ter
XM_011542843.2:c.6643_6644del (ATM)	XP_011541145.1:p.Ser2215Ter
XM_011542844.3:c.5599_5600del (ATM)	XP_011541146.1:p.Ser1867Ter
XM_011542845.2:c.5335_5336del (ATM)	XP_011541147.1:p.Ser1779Ter
XM_017017789.2:c.6643_6644del (ATM)	XP_016873278.1:p.Ser2215Ter
XM_017017790.2:c.6643_6644del (ATM)	XP_016873279.1:p.Ser2215Ter
NM_001330368.2:c.641-16310_641-16309del (C11orf65)	NP_001317297.1:n.641-16310_641-16309del
NM_001351110.2:c.*38+9839_*38+9840del (C11orf65)	NP_001338039.1:n.*38+9839_*38+9840del
NM_001351834.2:c.6643_6644del (ATM)	NP_001338763.1:p.Ser2215Ter
NM_000051.4:c.6643_6644del (ATM) MANE Select	NP_000042.3:p.Ser2215Ter