Linked Data
ClinVar Variation Id:
266424
ClinVar RCV Id:
RCV000257049
dbSNP Id:
rs886040182
MyVariant Identifiers:
chr17:g.41243574_41243576delinsTT (hg19)
chr17:g.43091557_43091559delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091557_43091559delinsTT , CM000679.2:g.43091557_43091559delinsTT | GRCh38 |
| NC_000017.10:g.41243574_41243576delinsTT , CM000679.1:g.41243574_41243576delinsTT | GRCh37 |
| NC_000017.9:g.38497100_38497102delinsTT | NCBI36 |
| NG_005905.2:g.126425_126427delinsAA , LRG_292:g.126425_126427delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.4036_4038delinsAA | ||
| ENST00000461574.2:c.3972_3974delinsAA | ENSP00000417241.2:p.Met1324IlefsTer12 | |
| ENST00000470026.6:c.3972_3974delinsAA | ENSP00000419274.2:p.Met1324IlefsTer12 | |
| ENST00000473961.6:c.3846_3848delinsAA | ENSP00000420201.2:p.Met1282IlefsTer12 | |
| ENST00000476777.6:c.3969_3971delinsAA | ENSP00000417554.2:p.Met1323IlefsTer12 | |
| ENST00000477152.6:c.3894_3896delinsAA | ENSP00000419988.2:p.Met1298IlefsTer12 | |
| ENST00000478531.6:c.785-527_785-525delinsAA | ENSP00000420412.2:n.785-527_785-525delinsAA | |
| ENST00000489037.2:c.3894_3896delinsAA | ENSP00000420781.2:p.Met1298IlefsTer12 | |
| ENST00000493919.6:c.647-527_647-525delinsAA | ENSP00000418819.2:n.647-527_647-525delinsAA | |
| ENST00000494123.6:c.3972_3974delinsAA | ENSP00000419103.2:p.Met1324IlefsTer12 | |
| ENST00000497488.2:c.3084_3086delinsAA | ENSP00000418986.2:p.Met1028IlefsTer12 | |
| ENST00000618469.2:c.3972_3974delinsAA | ENSP00000478114.2:p.Met1324IlefsTer12 | |
| ENST00000634433.2:c.3849_3851delinsAA | ENSP00000489431.2:p.Met1283IlefsTer12 | |
| ENST00000644379.2:c.3972_3974delinsAA | ENSP00000496570.2:p.Met1324IlefsTer12 | |
| ENST00000644555.2:c.647-527_647-525delinsAA | ENSP00000494614.2:n.647-527_647-525delinsAA | |
| ENST00000652672.2:c.3831_3833delinsAA | ENSP00000498906.2:p.Met1277IlefsTer12 | |
| ENST00000484087.6:c.665-527_665-525delinsAA | ENSP00000419481.2:n.665-527_665-525delinsAA | |
| ENST00000700182.1:c.707-527_707-525delinsAA | ENSP00000514849.1:n.707-527_707-525delinsAA | |
| ENST00000357654.9:c.3972_3974delinsAA MANE Select | ENSP00000350283.3:p.Met1324IlefsTer12 | |
| ENST00000471181.7:c.3972_3974delinsAA | ENSP00000418960.2:p.Met1324IlefsTer12 | |
| ENST00000644379.1:c.293_295delinsAA | ||
| ENST00000352993.7:c.671-527_671-525delinsAA | ENSP00000312236.5:n.671-527_671-525delinsAA | |
| ENST00000354071.7:c.3972_3974delinsAA | ENSP00000326002.7:p.Met1324IlefsTer12 | |
| ENST00000357654.7:c.3972_3974delinsAA | ENSP00000350283.3:p.Met1324IlefsTer12 | |
| ENST00000461221.5:c.*3755_*3757delinsAA | ENSP00000418548.1:n.*3755_*3757delinsAA | |
| ENST00000461574.1:c.266_268delinsAA | ||
| ENST00000468300.5:c.788-527_788-525delinsAA | ENSP00000417148.1:n.788-527_788-525delinsAA | |
| ENST00000471181.6:c.3972_3974delinsAA | ENSP00000418960.2:p.Met1324IlefsTer12 | |
| ENST00000478531.5:c.785-527_785-525delinsAA | ENSP00000420412.1:n.785-527_785-525delinsAA | |
| ENST00000484087.5:c.410-527_410-525delinsAA | ENSP00000419481.1:n.410-527_410-525delinsAA | |
| ENST00000487825.5:c.413-527_413-525delinsAA | ENSP00000418212.1:n.413-527_413-525delinsAA | |
| ENST00000491747.6:c.788-527_788-525delinsAA | ENSP00000420705.2:n.788-527_788-525delinsAA | |
| ENST00000493795.5:c.3831_3833delinsAA | ENSP00000418775.1:p.Met1277IlefsTer12 | |
| ENST00000493919.5:c.647-527_647-525delinsAA | ENSP00000418819.1:n.647-527_647-525delinsAA | |
| ENST00000586385.5:c.5-27608_5-27606delinsAA | ENSP00000465818.1:n.5-27608_5-27606delinsAA | |
| ENST00000591534.5:c.-43-17038_-43-17036delinsAA | ENSP00000467329.1:n.-43-17038_-43-17036delinsAA | |
| ENST00000591849.5:c.-99+33712_-99+33714delinsAA | ENSP00000465347.1:n.-99+33712_-99+33714delinsAA | |
| NM_007294.3:c.3972_3974delinsAA , LRG_292t1:c.3972_3974delinsAA | NP_009225.1:p.Met1324IlefsTer12 | |
| NM_007297.3:c.3831_3833delinsAA | NP_009228.2:p.Met1277IlefsTer12 | |
| NM_007298.3:c.788-527_788-525delinsAA | NP_009229.2:n.788-527_788-525delinsAA | |
| NM_007299.3:c.788-527_788-525delinsAA | NP_009230.2:n.788-527_788-525delinsAA | |
| NM_007300.3:c.3972_3974delinsAA | NP_009231.2:p.Met1324IlefsTer12 | |
| NR_027676.1:n.4108_4110delinsAA | ||
| NM_007294.4:c.3972_3974delinsAA MANE Select | NP_009225.1:p.Met1324IlefsTer12 | |
| NM_007297.4:c.3831_3833delinsAA | NP_009228.2:p.Met1277IlefsTer12 | |
| NM_007299.4:c.788-527_788-525delinsAA | NP_009230.2:n.788-527_788-525delinsAA | |
| NM_007300.4:c.3972_3974delinsAA | NP_009231.2:p.Met1324IlefsTer12 | |
| NR_027676.2:n.4149_4151delinsAA |