Linked Data
ClinVar Variation Id:
2104849
ClinVar RCV Id:
RCV003031591
dbSNP Id:
rs1355690953
gnomAD v2:
11-108205731-T-TATACAGTC
gnomAD v4:
11-108335004-T-TATACAGTC
MyVariant Identifiers:
chr11:g.108205731_108205732insATACAGTC (hg19)
chr11:g.108335004_108335005insATACAGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108335007_108335014dup , CM000673.2:g.108335007_108335014dup | GRCh38 |
| NC_000011.9:g.108205734_108205741dup , CM000673.1:g.108205734_108205741dup | GRCh37 |
| NC_000011.8:g.107710944_107710951dup | NCBI36 |
| NG_009830.1:g.117176_117183dup , LRG_135:g.117176_117183dup | |
| NG_054724.1:g.139821_139828dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.8049_8056dup (ATM) | ENSP00000388058.2:p.Phe2686TyrfsTer10 | |
| ENST00000713593.1:c.*7520_*7527dup (ATM) | ENSP00000518889.1:n.*7520_*7527dup | |
| ENST00000278616.9:c.8049_8056dup (ATM) | ENSP00000278616.4:p.Phe2686TyrfsTer10 | |
| ENST00000525056.2:n.2468_2475dup (ATM) | ||
| ENST00000638786.2:n.747_754dup (ATM) | ||
| ENST00000682286.1:n.2806_2813dup (ATM) | ||
| ENST00000682302.1:n.2467_2474dup (ATM) | ||
| ENST00000683174.1:n.9533_9540dup (ATM) | ||
| ENST00000683524.1:n.3273_3280dup (ATM) | ||
| ENST00000684152.1:n.3465_3472dup (ATM) | ||
| ENST00000684180.1:n.523_530dup (ATM) | ||
| ENST00000684447.1:n.4542_4549dup (ATM) | ||
| ENST00000527805.6:c.*3113_*3120dup (ATM) | ENSP00000435747.2:n.*3113_*3120dup | |
| ENST00000675595.1:c.*3184_*3191dup (ATM) | ENSP00000502563.1:n.*3184_*3191dup | |
| ENST00000675843.1:c.8049_8056dup (ATM) MANE Select | ENSP00000501606.1:p.Phe2686TyrfsTer10 | |
| ENST00000278616.8:c.8049_8056dup (ATM) | ENSP00000278616.4:p.Phe2686TyrfsTer10 | |
| ENST00000452508.6:c.8049_8056dup (ATM) | ENSP00000388058.2:p.Phe2686TyrfsTer10 | |
| ENST00000524755.5:c.299+208_299+215dup (C11orf65) | ||
| ENST00000524792.5:n.4264_4271dup (ATM) | ||
| ENST00000525056.1:n.246_253dup (ATM) | ||
| ENST00000525729.5:c.641-25941_641-25934dup (C11orf65) | ENSP00000433395.1:n.641-25941_641-25934dup | |
| ENST00000527531.5:c.*1269+208_*1269+215dup (C11orf65) | ENSP00000431706.1:n.*1269+208_*1269+215dup | |
| ENST00000533979.5:n.261_268dup (ATM) | ||
| ENST00000615746.4:c.*1269+208_*1269+215dup (C11orf65) | ENSP00000483537.1:n.*1269+208_*1269+215dup | |
| NM_000051.3:c.8049_8056dup , LRG_135t1:c.8049_8056dup (ATM) | NP_000042.3:p.Phe2686TyrfsTer10 | |
| XM_005271414.3:c.*38+208_*38+215dup (C11orf65) | XP_005271471.1:n.*38+208_*38+215dup | |
| XM_005271415.3:c.804+208_804+215dup (C11orf65) | XP_005271472.1:n.804+208_804+215dup | |
| XM_005271561.3:c.8049_8056dup (ATM) | XP_005271618.2:p.Phe2686TyrfsTer10 | |
| XM_005271562.3:c.8049_8056dup (ATM) | XP_005271619.2:p.Phe2686TyrfsTer10 | |
| XM_006718843.2:c.8049_8056dup (ATM) | XP_006718906.1:p.Phe2686TyrfsTer10 | |
| XM_006718845.1:c.4005_4012dup (ATM) | XP_006718908.1:p.Phe1338TyrfsTer10 | |
| XM_011542840.1:c.8049_8056dup (ATM) | XP_011541142.1:p.Phe2686TyrfsTer10 | |
| XM_011542841.1:c.8049_8056dup (ATM) | XP_011541143.1:p.Phe2686TyrfsTer10 | |
| XM_011542842.1:c.7884_7891dup (ATM) | XP_011541144.1:p.Phe2631TyrfsTer10 | |
| XM_011542843.1:c.8049_8056dup (ATM) | XP_011541145.1:p.Phe2686TyrfsTer10 | |
| XM_011542844.1:c.7005_7012dup (ATM) | XP_011541146.1:p.Phe2338TyrfsTer10 | |
| XM_011542845.1:c.6741_6748dup (ATM) | XP_011541147.1:p.Phe2250TyrfsTer10 | |
| XM_011542847.1:c.3120_3127dup (ATM) | XP_011541149.1:p.Phe1043TyrfsTer10 | |
| NM_001330368.1:c.641-25941_641-25934dup (C11orf65) | NP_001317297.1:n.641-25941_641-25934dup | |
| NM_001351110.1:c.*38+208_*38+215dup (C11orf65) | NP_001338039.1:n.*38+208_*38+215dup | |
| NM_001351834.1:c.8049_8056dup (ATM) | NP_001338763.1:p.Phe2686TyrfsTer10 | |
| NR_147053.2:n.2374+208_2374+215dup (C11orf65) | ||
| XM_005271414.4:c.*38+208_*38+215dup (C11orf65) | XP_005271471.1:n.*38+208_*38+215dup | |
| XM_005271415.4:c.804+208_804+215dup (C11orf65) | XP_005271472.1:n.804+208_804+215dup | |
| XM_005271562.5:c.8049_8056dup (ATM) | XP_005271619.2:p.Phe2686TyrfsTer10 | |
| XM_006718843.4:c.8049_8056dup (ATM) | XP_006718906.1:p.Phe2686TyrfsTer10 | |
| XM_006718845.2:c.4005_4012dup (ATM) | XP_006718908.1:p.Phe1338TyrfsTer10 | |
| XM_011542840.3:c.8049_8056dup (ATM) | XP_011541142.1:p.Phe2686TyrfsTer10 | |
| XM_011542842.3:c.7884_7891dup (ATM) | XP_011541144.1:p.Phe2631TyrfsTer10 | |
| XM_011542843.2:c.8049_8056dup (ATM) | XP_011541145.1:p.Phe2686TyrfsTer10 | |
| XM_011542844.3:c.7005_7012dup (ATM) | XP_011541146.1:p.Phe2338TyrfsTer10 | |
| XM_011542845.2:c.6741_6748dup (ATM) | XP_011541147.1:p.Phe2250TyrfsTer10 | |
| XM_017017789.2:c.8049_8056dup (ATM) | XP_016873278.1:p.Phe2686TyrfsTer10 | |
| XM_017017790.2:c.8049_8056dup (ATM) | XP_016873279.1:p.Phe2686TyrfsTer10 | |
| NM_001330368.2:c.641-25941_641-25934dup (C11orf65) | NP_001317297.1:n.641-25941_641-25934dup | |
| NM_001351110.2:c.*38+208_*38+215dup (C11orf65) | NP_001338039.1:n.*38+208_*38+215dup | |
| NM_001351834.2:c.8049_8056dup (ATM) | NP_001338763.1:p.Phe2686TyrfsTer10 | |
| NM_000051.4:c.8049_8056dup (ATM) MANE Select | NP_000042.3:p.Phe2686TyrfsTer10 | |
| NR_147053.3:n.2372+208_2372+215dup (C11orf65) |