Canonical Allele Identifier: CA2580083310

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1757554
• ClinVar RCV Id: RCV002370748

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108329116_108329117del , CM000673.2:g.108329116_108329117del	GRCh38
NC_000011.9:g.108199843_108199844del , CM000673.1:g.108199843_108199844del	GRCh37
NC_000011.8:g.107705053_107705054del	NCBI36
NG_009830.1:g.111285_111286del , LRG_135:g.111285_111286del
NG_054724.1:g.145717_145718del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7185_7186del (ATM)	ENSP00000388058.2:p.Thr2396SerfsTer6
ENST00000713593.1:c.*6656_*6657del (ATM)	ENSP00000518889.1:n.*6656_*6657del
ENST00000278616.9:c.7185_7186del (ATM)	ENSP00000278616.4:p.Thr2396SerfsTer6
ENST00000525056.2:n.1604_1605del (ATM)
ENST00000525537.3:n.142_143del (ATM)
ENST00000638786.2:n.22_23del (ATM)
ENST00000682286.1:n.1942_1943del (ATM)
ENST00000682302.1:n.1603_1604del (ATM)
ENST00000683174.1:n.8669_8670del (ATM)
ENST00000683524.1:n.2409_2410del (ATM)
ENST00000684152.1:n.2899_2900del (ATM)
ENST00000684447.1:n.1648_1649del (ATM)
ENST00000527805.6:c.*2249_*2250del (ATM)	ENSP00000435747.2:n.*2249_*2250del
ENST00000675595.1:c.*2320_*2321del (ATM)	ENSP00000502563.1:n.*2320_*2321del
ENST00000675843.1:c.7185_7186del (ATM) MANE Select	ENSP00000501606.1:p.Thr2396SerfsTer6
ENST00000278616.8:c.7185_7186del (ATM)	ENSP00000278616.4:p.Thr2396SerfsTer6
ENST00000452508.6:c.7185_7186del (ATM)	ENSP00000388058.2:p.Thr2396SerfsTer6
ENST00000524792.5:n.3400_3401del (ATM)
ENST00000525537.2:n.461_462del (ATM)
ENST00000525729.5:c.641-20045_641-20044del (C11orf65)	ENSP00000433395.1:n.641-20045_641-20044del
ENST00000527389.2:n.210_211del (ATM)
ENST00000533690.5:n.2589_2590del (ATM)
NM_000051.3:c.7185_7186del , LRG_135t1:c.7185_7186del (ATM)	NP_000042.3:p.Thr2396SerfsTer6
XM_005271561.3:c.7185_7186del (ATM)	XP_005271618.2:p.Thr2396SerfsTer6
XM_005271562.3:c.7185_7186del (ATM)	XP_005271619.2:p.Thr2396SerfsTer6
XM_006718843.2:c.7185_7186del (ATM)	XP_006718906.1:p.Thr2396SerfsTer6
XM_006718845.1:c.3141_3142del (ATM)	XP_006718908.1:p.Thr1048SerfsTer6
XM_011542840.1:c.7185_7186del (ATM)	XP_011541142.1:p.Thr2396SerfsTer6
XM_011542841.1:c.7185_7186del (ATM)	XP_011541143.1:p.Thr2396SerfsTer6
XM_011542842.1:c.7020_7021del (ATM)	XP_011541144.1:p.Thr2341SerfsTer6
XM_011542843.1:c.7185_7186del (ATM)	XP_011541145.1:p.Thr2396SerfsTer6
XM_011542844.1:c.6141_6142del (ATM)	XP_011541146.1:p.Thr2048SerfsTer6
XM_011542845.1:c.5877_5878del (ATM)	XP_011541147.1:p.Thr1960SerfsTer6
XM_011542847.1:c.2256_2257del (ATM)	XP_011541149.1:p.Thr753SerfsTer6
NM_001330368.1:c.641-20045_641-20044del (C11orf65)	NP_001317297.1:n.641-20045_641-20044del
NM_001351110.1:c.*38+6104_*38+6105del (C11orf65)	NP_001338039.1:n.*38+6104_*38+6105del
NM_001351834.1:c.7185_7186del (ATM)	NP_001338763.1:p.Thr2396SerfsTer6
XM_005271562.5:c.7185_7186del (ATM)	XP_005271619.2:p.Thr2396SerfsTer6
XM_006718843.4:c.7185_7186del (ATM)	XP_006718906.1:p.Thr2396SerfsTer6
XM_006718845.2:c.3141_3142del (ATM)	XP_006718908.1:p.Thr1048SerfsTer6
XM_011542840.3:c.7185_7186del (ATM)	XP_011541142.1:p.Thr2396SerfsTer6
XM_011542842.3:c.7020_7021del (ATM)	XP_011541144.1:p.Thr2341SerfsTer6
XM_011542843.2:c.7185_7186del (ATM)	XP_011541145.1:p.Thr2396SerfsTer6
XM_011542844.3:c.6141_6142del (ATM)	XP_011541146.1:p.Thr2048SerfsTer6
XM_011542845.2:c.5877_5878del (ATM)	XP_011541147.1:p.Thr1960SerfsTer6
XM_017017789.2:c.7185_7186del (ATM)	XP_016873278.1:p.Thr2396SerfsTer6
XM_017017790.2:c.7185_7186del (ATM)	XP_016873279.1:p.Thr2396SerfsTer6
NM_001330368.2:c.641-20045_641-20044del (C11orf65)	NP_001317297.1:n.641-20045_641-20044del
NM_001351110.2:c.*38+6104_*38+6105del (C11orf65)	NP_001338039.1:n.*38+6104_*38+6105del
NM_001351834.2:c.7185_7186del (ATM)	NP_001338763.1:p.Thr2396SerfsTer6
NM_000051.4:c.7185_7186del (ATM) MANE Select	NP_000042.3:p.Thr2396SerfsTer6