Canonical Allele Identifier: CA2697556942

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 2774704
• ClinVar RCV Id: RCV003585894

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108326179_108326202del , CM000673.2:g.108326179_108326202del	GRCh38
NC_000011.9:g.108196906_108196929del , CM000673.1:g.108196906_108196929del	GRCh37
NC_000011.8:g.107702116_107702139del	NCBI36
NG_009830.1:g.108348_108371del , LRG_135:g.108348_108371del
NG_054724.1:g.148633_148656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.6929_6952del (ATM)	ENSP00000388058.2:p.Ser2310_Lys2317del
ENST00000713593.1:c.*6400_*6423del (ATM)	ENSP00000518889.1:n.*6400_*6423del
ENST00000278616.9:c.6929_6952del (ATM)	ENSP00000278616.4:p.Ser2310_Lys2317del
ENST00000525056.2:n.1348_1371del (ATM)
ENST00000682286.1:n.1686_1709del (ATM)
ENST00000682302.1:n.1347_1370del (ATM)
ENST00000683174.1:n.8413_8436del (ATM)
ENST00000683524.1:n.2153_2176del (ATM)
ENST00000684152.1:n.2643_2666del (ATM)
ENST00000527805.6:c.*1993_*2016del (ATM)	ENSP00000435747.2:n.*1993_*2016del
ENST00000675595.1:c.*2064_*2087del (ATM)	ENSP00000502563.1:n.*2064_*2087del
ENST00000675843.1:c.6929_6952del (ATM) MANE Select	ENSP00000501606.1:p.Ser2310_Lys2317del
ENST00000278616.8:c.6929_6952del (ATM)	ENSP00000278616.4:p.Ser2310_Lys2317del
ENST00000452508.6:c.6929_6952del (ATM)	ENSP00000388058.2:p.Ser2310_Lys2317del
ENST00000524792.5:n.3144_3167del (ATM)
ENST00000525729.5:c.641-17129_641-17106del (C11orf65)	ENSP00000433395.1:n.641-17129_641-17106del
ENST00000533690.5:n.2333_2356del (ATM)
NM_000051.3:c.6929_6952del , LRG_135t1:c.6929_6952del (ATM)	NP_000042.3:p.Ser2310_Lys2317del
XM_005271561.3:c.6929_6952del (ATM)	XP_005271618.2:p.Ser2310_Lys2317del
XM_005271562.3:c.6929_6952del (ATM)	XP_005271619.2:p.Ser2310_Lys2317del
XM_006718843.2:c.6929_6952del (ATM)	XP_006718906.1:p.Ser2310_Lys2317del
XM_006718845.1:c.2885_2908del (ATM)	XP_006718908.1:p.Ser962_Lys969del
XM_011542840.1:c.6929_6952del (ATM)	XP_011541142.1:p.Ser2310_Lys2317del
XM_011542841.1:c.6929_6952del (ATM)	XP_011541143.1:p.Ser2310_Lys2317del
XM_011542842.1:c.6764_6787del (ATM)	XP_011541144.1:p.Ser2255_Lys2262del
XM_011542843.1:c.6929_6952del (ATM)	XP_011541145.1:p.Ser2310_Lys2317del
XM_011542844.1:c.5885_5908del (ATM)	XP_011541146.1:p.Ser1962_Lys1969del
XM_011542845.1:c.5621_5644del (ATM)	XP_011541147.1:p.Ser1874_Lys1881del
XM_011542847.1:c.2000_2023del (ATM)	XP_011541149.1:p.Ser667_Lys674del
NM_001330368.1:c.641-17129_641-17106del (C11orf65)	NP_001317297.1:n.641-17129_641-17106del
NM_001351110.1:c.*38+9020_*38+9043del (C11orf65)	NP_001338039.1:n.*38+9020_*38+9043del
NM_001351834.1:c.6929_6952del (ATM)	NP_001338763.1:p.Ser2310_Lys2317del
XM_005271562.5:c.6929_6952del (ATM)	XP_005271619.2:p.Ser2310_Lys2317del
XM_006718843.4:c.6929_6952del (ATM)	XP_006718906.1:p.Ser2310_Lys2317del
XM_006718845.2:c.2885_2908del (ATM)	XP_006718908.1:p.Ser962_Lys969del
XM_011542840.3:c.6929_6952del (ATM)	XP_011541142.1:p.Ser2310_Lys2317del
XM_011542842.3:c.6764_6787del (ATM)	XP_011541144.1:p.Ser2255_Lys2262del
XM_011542843.2:c.6929_6952del (ATM)	XP_011541145.1:p.Ser2310_Lys2317del
XM_011542844.3:c.5885_5908del (ATM)	XP_011541146.1:p.Ser1962_Lys1969del
XM_011542845.2:c.5621_5644del (ATM)	XP_011541147.1:p.Ser1874_Lys1881del
XM_017017789.2:c.6929_6952del (ATM)	XP_016873278.1:p.Ser2310_Lys2317del
XM_017017790.2:c.6929_6952del (ATM)	XP_016873279.1:p.Ser2310_Lys2317del
NM_001330368.2:c.641-17129_641-17106del (C11orf65)	NP_001317297.1:n.641-17129_641-17106del
NM_001351110.2:c.*38+9020_*38+9043del (C11orf65)	NP_001338039.1:n.*38+9020_*38+9043del
NM_001351834.2:c.6929_6952del (ATM)	NP_001338763.1:p.Ser2310_Lys2317del
NM_000051.4:c.6929_6952del (ATM) MANE Select	NP_000042.3:p.Ser2310_Lys2317del