Linked Data
ClinVar Variation Id:
279944
dbSNP Id:
rs886041272
MyVariant Identifiers:
chr11:g.44129660_44129663dupTGCT (hg19)
chr11:g.44108110_44108113dupTGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44108110_44108113dup , CM000673.2:g.44108110_44108113dup | GRCh38 |
| NC_000011.9:g.44129660_44129663dup , CM000673.1:g.44129660_44129663dup | GRCh37 |
| NC_000011.8:g.44086236_44086239dup | NCBI36 |
| NG_007560.1:g.17562_17565dup , LRG_494:g.17562_17565dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343631.4:c.398_401dup | ENSP00000342656.3:p.Met135AlafsTer8 | |
| ENST00000395673.8:c.398_401dup | ENSP00000379032.4:p.Met135AlafsTer8 | |
| ENST00000531161.6:n.557_560dup | ||
| ENST00000682359.1:c.398_401dup | ENSP00000508226.1:p.Met135AlafsTer8 | |
| ENST00000682711.1:c.-544+12258_-544+12261dup | ENSP00000506803.1:n.-544+12258_-544+12261dup | |
| ENST00000682815.1:c.398_401dup | ENSP00000507234.1:p.Met135AlafsTer8 | |
| ENST00000682947.1:n.572_575dup | ||
| ENST00000682993.1:c.398_401dup | ENSP00000507580.1:p.Met135AlafsTer8 | |
| ENST00000683000.1:c.398_401dup | ENSP00000508361.1:p.Met135AlafsTer8 | |
| ENST00000683299.1:n.815_818dup | ||
| ENST00000683870.1:c.398_401dup | ENSP00000507922.1:p.Met135AlafsTer8 | |
| ENST00000683881.1:n.2959_2962dup | ||
| ENST00000684039.1:c.398_401dup | ENSP00000507677.1:p.Met135AlafsTer8 | |
| ENST00000684124.1:c.398_401dup | ENSP00000508332.1:p.Met135AlafsTer8 | |
| ENST00000684533.1:c.398_401dup | ENSP00000507915.1:p.Met135AlafsTer8 | |
| ENST00000533608.7:c.398_401dup MANE Select | ENSP00000431173.2:p.Met135AlafsTer8 | |
| ENST00000343631.3:c.398_401dup | ENSP00000342656.3:p.Met135AlafsTer8 | |
| ENST00000358681.8:c.398_401dup | ENSP00000351509.4:p.Met135AlafsTer8 | |
| ENST00000395673.7:c.497_500dup | ENSP00000379032.3:p.Met168AlafsTer8 | |
| ENST00000529186.1:n.96_99dup | ||
| ENST00000533608.5:c.398_401dup | ENSP00000431173.1:p.Met135AlafsTer8 | |
| NM_000401.3:c.497_500dup , LRG_494t1:c.497_500dup | NP_000392.3:p.Met168AlafsTer8 | |
| NM_001178083.1:c.398_401dup | NP_001171554.1:p.Met135AlafsTer8 | |
| NM_207122.1:c.398_401dup , LRG_494t2:c.398_401dup | NP_997005.1:p.Met135AlafsTer8 | |
| XM_011519950.1:c.536_539dup | XP_011518252.1:p.Met181AlafsTer8 | |
| XM_011519951.1:c.437_440dup | XP_011518253.1:p.Met148AlafsTer8 | |
| XM_024448383.1:c.536_539dup | XP_024304151.1:p.Met181AlafsTer8 | |
| NM_001178083.2:c.398_401dup | NP_001171554.1:p.Met135AlafsTer8 | |
| NM_207122.2:c.398_401dup MANE Select | NP_997005.1:p.Met135AlafsTer8 | |
| NM_001178083.3:c.398_401dup | NP_001171554.1:p.Met135AlafsTer8 | |
| NM_001389628.1:c.398_401dup | NP_001376557.1:p.Met135AlafsTer8 | |
| NM_001389630.1:c.398_401dup | NP_001376559.1:p.Met135AlafsTer8 |