Canonical Allele Identifier: CA915948333

Gene: ATM C11orf65

Linked Data

• ClinVar Variation Id: 660103
• ClinVar RCV Id: RCV000817233
• dbSNP Id: rs1591307438

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108353875_108353882del , CM000673.2:g.108353875_108353882del	GRCh38
NC_000011.9:g.108224602_108224609del , CM000673.1:g.108224602_108224609del	GRCh37
NC_000011.8:g.107729812_107729819del	NCBI36
NG_009830.1:g.136044_136051del , LRG_135:g.136044_136051del
NG_054724.1:g.120952_120959del

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.8781_8786+2del (ATM)
ENST00000713593.1:c.*8252_*8257+2del (ATM)
ENST00000278616.9:c.8781_8786+2del (ATM)
ENST00000638786.2:n.1479_1484+2del (ATM)
ENST00000682286.1:n.3538_3543+2del (ATM)
ENST00000682302.1:n.3199_3204+2del (ATM)
ENST00000683174.1:n.10265_10270+2del (ATM)
ENST00000683524.1:n.4005_4010+2del (ATM)
ENST00000684152.1:n.4197_4202+2del (ATM)
ENST00000684180.1:n.1255_1260+2del (ATM)
ENST00000684447.1:n.5274_5279+2del (ATM)
ENST00000527805.6:c.*3845_*3850+2del (ATM)
ENST00000675595.1:c.*3916_*3921+2del (ATM)
ENST00000675843.1:c.8781_8786+2del (ATM)
ENST00000278616.8:c.8781_8786+2del (ATM)
ENST00000452508.6:c.8781_8786+2del (ATM)
ENST00000524755.5:c.227-18589_227-18582del (C11orf65)
ENST00000524792.5:n.4996_5001+2del (ATM)
ENST00000525178.5:n.269_274+2del (ATM)
ENST00000525729.5:c.640+32039_640+32046del (C11orf65)	ENSP00000433395.1:n.640+32039_640+32046de...
ENST00000526725.1:n.272-13517_272-13510del (C11orf65)
ENST00000527181.1:n.120_125+2del (ATM)
ENST00000527531.5:c.*1196+1034_*1196+1041del (C11orf65)	ENSP00000431706.1:n.*1196+1034_*1196+1041...
ENST00000615746.4:c.*1196+1034_*1196+1041del (C11orf65)	ENSP00000483537.1:n.*1196+1034_*1196+1041...
NM_000051.3:c.8781_8786+2del , LRG_135t1:c.8781_8786+2del (ATM)
XM_005271414.3:c.788-18589_788-18582del (C11orf65)	XP_005271471.1:n.788-18589_788-18582del
XM_005271415.3:c.732-18589_732-18582del (C11orf65)	XP_005271472.1:n.732-18589_732-18582del
XM_005271561.3:c.8781_8786+2del (ATM)
XM_005271562.3:c.8781_8786+2del (ATM)
XM_006718843.2:c.8781_8786+2del (ATM)
XM_006718845.1:c.4737_4742+2del (ATM)
XM_011542640.1:c.788-13517_788-13510del (C11orf65)	XP_011540942.1:n.788-13517_788-13510del
XM_011542642.1:c.732-4808_732-4801del (C11orf65)	XP_011540944.1:n.732-4808_732-4801del
XM_011542643.1:c.732-13517_732-13510del (C11orf65)	XP_011540945.1:n.732-13517_732-13510del
XM_011542840.1:c.8781_8786+2del (ATM)
XM_011542841.1:c.8781_8786+2del (ATM)
XM_011542842.1:c.8616_8621+2del (ATM)
XM_011542844.1:c.7737_7742+2del (ATM)
XM_011542845.1:c.7473_7478+2del (ATM)
XM_011542847.1:c.3852_3857+2del (ATM)
NM_001330368.1:c.640+32039_640+32046del (C11orf65)	NP_001317297.1:n.640+32039_640+32046del
NM_001351110.1:c.695-18589_695-18582del (C11orf65)	NP_001338039.1:n.695-18589_695-18582del
NM_001351834.1:c.8781_8786+2del (ATM)
NR_147053.2:n.2301+1034_2301+1041del (C11orf65)
XM_005271414.4:c.788-18589_788-18582del (C11orf65)	XP_005271471.1:n.788-18589_788-18582del
XM_005271415.4:c.732-18589_732-18582del (C11orf65)	XP_005271472.1:n.732-18589_732-18582del
XM_005271562.5:c.8781_8786+2del (ATM)
XM_006718843.4:c.8781_8786+2del (ATM)
XM_006718845.2:c.4737_4742+2del (ATM)
XM_011542640.2:c.788-13517_788-13510del (C11orf65)	XP_011540942.1:n.788-13517_788-13510del
XM_011542643.2:c.732-13517_732-13510del (C11orf65)	XP_011540945.1:n.732-13517_732-13510del
XM_011542840.3:c.8781_8786+2del (ATM)
XM_011542842.3:c.8616_8621+2del (ATM)
XM_011542844.3:c.7737_7742+2del (ATM)
XM_011542845.2:c.7473_7478+2del (ATM)
XM_017017247.1:c.904-13517_904-13510del (C11orf65)	XP_016872736.1:n.904-13517_904-13510del
XM_017017789.2:c.8781_8786+2del (ATM)
XM_017017790.2:c.8781_8786+2del (ATM)
NM_001330368.2:c.640+32039_640+32046del (C11orf65)	NP_001317297.1:n.640+32039_640+32046del
NM_001351110.2:c.695-18589_695-18582del (C11orf65)	NP_001338039.1:n.695-18589_695-18582del
NM_001351834.2:c.8781_8786+2del (ATM)
NM_000051.4:c.8781_8786+2del (ATM)
NR_147053.3:n.2299+1034_2299+1041del (C11orf65)