Canonical Allele Identifier: CA2573146614

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 1366879
• ClinVar RCV Id: RCV001944888 ; RCV002361131 ; RCV004040373
• dbSNP Id: rs2136379109

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108327746_108327747dup , CM000673.2:g.108327746_108327747dup	GRCh38
NC_000011.9:g.108198473_108198474dup , CM000673.1:g.108198473_108198474dup	GRCh37
NC_000011.8:g.107703683_107703684dup	NCBI36
NG_009830.1:g.109915_109916dup , LRG_135:g.109915_109916dup
NG_054724.1:g.147086_147087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.7077_7078dup (ATM)	ENSP00000388058.2:p.Tyr2360SerfsTer3
ENST00000713593.1:c.*6548_*6549dup (ATM)	ENSP00000518889.1:n.*6548_*6549dup
ENST00000278616.9:c.7077_7078dup (ATM)	ENSP00000278616.4:p.Tyr2360SerfsTer3
ENST00000525056.2:n.1496_1497dup (ATM)
ENST00000525537.3:n.34_35dup (ATM)
ENST00000682286.1:n.1834_1835dup (ATM)
ENST00000682302.1:n.1495_1496dup (ATM)
ENST00000683174.1:n.8561_8562dup (ATM)
ENST00000683524.1:n.2301_2302dup (ATM)
ENST00000684152.1:n.2791_2792dup (ATM)
ENST00000684447.1:n.1540_1541dup (ATM)
ENST00000527805.6:c.*2141_*2142dup (ATM)	ENSP00000435747.2:n.*2141_*2142dup
ENST00000675595.1:c.*2212_*2213dup (ATM)	ENSP00000502563.1:n.*2212_*2213dup
ENST00000675843.1:c.7077_7078dup (ATM) MANE Select	ENSP00000501606.1:p.Tyr2360SerfsTer3
ENST00000278616.8:c.7077_7078dup (ATM)	ENSP00000278616.4:p.Tyr2360SerfsTer3
ENST00000452508.6:c.7077_7078dup (ATM)	ENSP00000388058.2:p.Tyr2360SerfsTer3
ENST00000524792.5:n.3292_3293dup (ATM)
ENST00000525537.2:n.353_354dup (ATM)
ENST00000525729.5:c.641-18676_641-18675dup (C11orf65)	ENSP00000433395.1:n.641-18676_641-18675dup
ENST00000527389.2:n.102_103dup (ATM)
ENST00000533690.5:n.2481_2482dup (ATM)
NM_000051.3:c.7077_7078dup , LRG_135t1:c.7077_7078dup (ATM)	NP_000042.3:p.Tyr2360SerfsTer3
XM_005271561.3:c.7077_7078dup (ATM)	XP_005271618.2:p.Tyr2360SerfsTer3
XM_005271562.3:c.7077_7078dup (ATM)	XP_005271619.2:p.Tyr2360SerfsTer3
XM_006718843.2:c.7077_7078dup (ATM)	XP_006718906.1:p.Tyr2360SerfsTer3
XM_006718845.1:c.3033_3034dup (ATM)	XP_006718908.1:p.Tyr1012SerfsTer3
XM_011542840.1:c.7077_7078dup (ATM)	XP_011541142.1:p.Tyr2360SerfsTer3
XM_011542841.1:c.7077_7078dup (ATM)	XP_011541143.1:p.Tyr2360SerfsTer3
XM_011542842.1:c.6912_6913dup (ATM)	XP_011541144.1:p.Tyr2305SerfsTer3
XM_011542843.1:c.7077_7078dup (ATM)	XP_011541145.1:p.Tyr2360SerfsTer3
XM_011542844.1:c.6033_6034dup (ATM)	XP_011541146.1:p.Tyr2012SerfsTer3
XM_011542845.1:c.5769_5770dup (ATM)	XP_011541147.1:p.Tyr1924SerfsTer3
XM_011542847.1:c.2148_2149dup (ATM)	XP_011541149.1:p.Tyr717SerfsTer3
NM_001330368.1:c.641-18676_641-18675dup (C11orf65)	NP_001317297.1:n.641-18676_641-18675dup
NM_001351110.1:c.*38+7473_*38+7474dup (C11orf65)	NP_001338039.1:n.*38+7473_*38+7474dup
NM_001351834.1:c.7077_7078dup (ATM)	NP_001338763.1:p.Tyr2360SerfsTer3
XM_005271562.5:c.7077_7078dup (ATM)	XP_005271619.2:p.Tyr2360SerfsTer3
XM_006718843.4:c.7077_7078dup (ATM)	XP_006718906.1:p.Tyr2360SerfsTer3
XM_006718845.2:c.3033_3034dup (ATM)	XP_006718908.1:p.Tyr1012SerfsTer3
XM_011542840.3:c.7077_7078dup (ATM)	XP_011541142.1:p.Tyr2360SerfsTer3
XM_011542842.3:c.6912_6913dup (ATM)	XP_011541144.1:p.Tyr2305SerfsTer3
XM_011542843.2:c.7077_7078dup (ATM)	XP_011541145.1:p.Tyr2360SerfsTer3
XM_011542844.3:c.6033_6034dup (ATM)	XP_011541146.1:p.Tyr2012SerfsTer3
XM_011542845.2:c.5769_5770dup (ATM)	XP_011541147.1:p.Tyr1924SerfsTer3
XM_017017789.2:c.7077_7078dup (ATM)	XP_016873278.1:p.Tyr2360SerfsTer3
XM_017017790.2:c.7077_7078dup (ATM)	XP_016873279.1:p.Tyr2360SerfsTer3
NM_001330368.2:c.641-18676_641-18675dup (C11orf65)	NP_001317297.1:n.641-18676_641-18675dup
NM_001351110.2:c.*38+7473_*38+7474dup (C11orf65)	NP_001338039.1:n.*38+7473_*38+7474dup
NM_001351834.2:c.7077_7078dup (ATM)	NP_001338763.1:p.Tyr2360SerfsTer3
NM_000051.4:c.7077_7078dup (ATM) MANE Select	NP_000042.3:p.Tyr2360SerfsTer3