Canonical Allele Identifier: CA671414633

Gene: ATM C11orf65

Linked Data

• dbSNP Id: rs1342902263
• gnomAD v3: 11-108354058-TACACACACACAAACACACACACAC-T
• gnomAD v4: 11-108354058-TACACACACACAAACACACACACAC-T
• MyVariant Identifiers: chr11:g.108224786_108224809del (hg19) ; chr11:g.108354059_108354082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108354070_108354093del , CM000673.2:g.108354070_108354093del	GRCh38
NC_000011.9:g.108224797_108224820del , CM000673.1:g.108224797_108224820del	GRCh37
NC_000011.8:g.107730007_107730030del	NCBI36
NG_009830.1:g.136239_136262del , LRG_135:g.136239_136262del
NG_054724.1:g.120751_120774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8786+190_8786+213del (ATM)	ENSP00000388058.2:n.8786+190_8786+213del
ENST00000713593.1:c.*8257+190_*8257+213del (ATM)	ENSP00000518889.1:n.*8257+190_*8257+213del
ENST00000278616.9:c.8786+190_8786+213del (ATM)	ENSP00000278616.4:n.8786+190_8786+213del
ENST00000638786.2:n.1484+190_1484+213del (ATM)
ENST00000682286.1:n.3543+190_3543+213del (ATM)
ENST00000682302.1:n.3204+190_3204+213del (ATM)
ENST00000683174.1:n.10270+190_10270+213del (ATM)
ENST00000683524.1:n.4010+190_4010+213del (ATM)
ENST00000684152.1:n.4202+190_4202+213del (ATM)
ENST00000684180.1:n.1260+190_1260+213del (ATM)
ENST00000684447.1:n.5279+190_5279+213del (ATM)
ENST00000527805.6:c.*3850+190_*3850+213del (ATM)	ENSP00000435747.2:n.*3850+190_*3850+213del
ENST00000675595.1:c.*3921+190_*3921+213del (ATM)	ENSP00000502563.1:n.*3921+190_*3921+213del
ENST00000675843.1:c.8786+190_8786+213del (ATM) MANE Select	ENSP00000501606.1:n.8786+190_8786+213del
ENST00000278616.8:c.8786+190_8786+213del (ATM)	ENSP00000278616.4:n.8786+190_8786+213del
ENST00000452508.6:c.8786+190_8786+213del (ATM)	ENSP00000388058.2:n.8786+190_8786+213del
ENST00000524755.5:c.227-18790_227-18767del (C11orf65)
ENST00000524792.5:n.5001+190_5001+213del (ATM)
ENST00000525178.5:n.274+190_274+213del (ATM)
ENST00000525729.5:c.640+31838_640+31861del (C11orf65)	ENSP00000433395.1:n.640+31838_640+31861del
ENST00000526725.1:n.272-13718_272-13695del (C11orf65)
ENST00000527181.1:n.125+190_125+213del (ATM)
ENST00000527531.5:c.*1196+833_*1196+856del (C11orf65)	ENSP00000431706.1:n.*1196+833_*1196+856del
ENST00000615746.4:c.*1196+833_*1196+856del (C11orf65)	ENSP00000483537.1:n.*1196+833_*1196+856del
NM_000051.3:c.8786+190_8786+213del , LRG_135t1:c.8786+190_8786+213del (ATM)	NP_000042.3:n.8786+190_8786+213del
XM_005271414.3:c.788-18790_788-18767del (C11orf65)	XP_005271471.1:n.788-18790_788-18767del
XM_005271415.3:c.732-18790_732-18767del (C11orf65)	XP_005271472.1:n.732-18790_732-18767del
XM_005271561.3:c.8786+190_8786+213del (ATM)	XP_005271618.2:n.8786+190_8786+213del
XM_005271562.3:c.8786+190_8786+213del (ATM)	XP_005271619.2:n.8786+190_8786+213del
XM_006718843.2:c.8786+190_8786+213del (ATM)	XP_006718906.1:n.8786+190_8786+213del
XM_006718845.1:c.4742+190_4742+213del (ATM)	XP_006718908.1:n.4742+190_4742+213del
XM_011542640.1:c.788-13718_788-13695del (C11orf65)	XP_011540942.1:n.788-13718_788-13695del
XM_011542642.1:c.732-5009_732-4986del (C11orf65)	XP_011540944.1:n.732-5009_732-4986del
XM_011542643.1:c.732-13718_732-13695del (C11orf65)	XP_011540945.1:n.732-13718_732-13695del
XM_011542840.1:c.8786+190_8786+213del (ATM)	XP_011541142.1:n.8786+190_8786+213del
XM_011542841.1:c.8786+190_8786+213del (ATM)	XP_011541143.1:n.8786+190_8786+213del
XM_011542842.1:c.8621+190_8621+213del (ATM)	XP_011541144.1:n.8621+190_8621+213del
XM_011542844.1:c.7742+190_7742+213del (ATM)	XP_011541146.1:n.7742+190_7742+213del
XM_011542845.1:c.7478+190_7478+213del (ATM)	XP_011541147.1:n.7478+190_7478+213del
XM_011542847.1:c.3857+190_3857+213del (ATM)	XP_011541149.1:n.3857+190_3857+213del
NM_001330368.1:c.640+31838_640+31861del (C11orf65)	NP_001317297.1:n.640+31838_640+31861del
NM_001351110.1:c.695-18790_695-18767del (C11orf65)	NP_001338039.1:n.695-18790_695-18767del
NM_001351834.1:c.8786+190_8786+213del (ATM)	NP_001338763.1:n.8786+190_8786+213del
NR_147053.2:n.2301+833_2301+856del (C11orf65)
XM_005271414.4:c.788-18790_788-18767del (C11orf65)	XP_005271471.1:n.788-18790_788-18767del
XM_005271415.4:c.732-18790_732-18767del (C11orf65)	XP_005271472.1:n.732-18790_732-18767del
XM_005271562.5:c.8786+190_8786+213del (ATM)	XP_005271619.2:n.8786+190_8786+213del
XM_006718843.4:c.8786+190_8786+213del (ATM)	XP_006718906.1:n.8786+190_8786+213del
XM_006718845.2:c.4742+190_4742+213del (ATM)	XP_006718908.1:n.4742+190_4742+213del
XM_011542640.2:c.788-13718_788-13695del (C11orf65)	XP_011540942.1:n.788-13718_788-13695del
XM_011542643.2:c.732-13718_732-13695del (C11orf65)	XP_011540945.1:n.732-13718_732-13695del
XM_011542840.3:c.8786+190_8786+213del (ATM)	XP_011541142.1:n.8786+190_8786+213del
XM_011542842.3:c.8621+190_8621+213del (ATM)	XP_011541144.1:n.8621+190_8621+213del
XM_011542844.3:c.7742+190_7742+213del (ATM)	XP_011541146.1:n.7742+190_7742+213del
XM_011542845.2:c.7478+190_7478+213del (ATM)	XP_011541147.1:n.7478+190_7478+213del
XM_017017247.1:c.904-13718_904-13695del (C11orf65)	XP_016872736.1:n.904-13718_904-13695del
XM_017017789.2:c.8786+190_8786+213del (ATM)	XP_016873278.1:n.8786+190_8786+213del
XM_017017790.2:c.8786+190_8786+213del (ATM)	XP_016873279.1:n.8786+190_8786+213del
NM_001330368.2:c.640+31838_640+31861del (C11orf65)	NP_001317297.1:n.640+31838_640+31861del
NM_001351110.2:c.695-18790_695-18767del (C11orf65)	NP_001338039.1:n.695-18790_695-18767del
NM_001351834.2:c.8786+190_8786+213del (ATM)	NP_001338763.1:n.8786+190_8786+213del
NM_000051.4:c.8786+190_8786+213del (ATM) MANE Select	NP_000042.3:n.8786+190_8786+213del
NR_147053.3:n.2299+833_2299+856del (C11orf65)