Linked Data
dbSNP Id:
rs786204394
MyVariant Identifiers:
chr12:g.32949198_32949203delinsC (hg19)
chr12:g.32796264_32796269delinsC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796264_32796269delinsC , CM000674.2:g.32796264_32796269delinsC | GRCh38 |
| NC_000012.11:g.32949198_32949203delinsC , CM000674.1:g.32949198_32949203delinsC | GRCh37 |
| NC_000012.10:g.32840465_32840470delinsC | NCBI36 |
| NG_009000.1:g.105578_105583delinsG , LRG_398:g.105578_105583delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700555.2:n.700_705delinsG | ||
| ENST00000700557.2:n.289_294delinsG | ||
| ENST00000700559.2:c.2168-3538_2168-3533delinsG | ENSP00000515065.2:n.2168-3538_2168-3533de... | |
| ENST00000546498.2:n.884_889delinsG | ||
| ENST00000549461.2:n.689_694delinsG | ||
| ENST00000700555.1:c.628_633delinsG | ENSP00000515062.1:p.Ile210AlafsTer2 | |
| ENST00000700556.1:c.668_673delinsG | ||
| ENST00000700557.1:c.208_213delinsG | ENSP00000515064.1:p.Ile70AlafsTer2 | |
| ENST00000700558.1:n.411_416delinsG | ||
| ENST00000700559.1:c.1383-3538_1383-3533delinsG | ||
| ENST00000700560.1:n.1412_1417delinsG | ||
| ENST00000700561.1:n.1538_1543delinsG | ||
| ENST00000070846.11:c.2329_2334delinsG | ENSP00000070846.6:p.Ile777AlafsTer2 | |
| ENST00000340811.9:c.2197_2202delinsG MANE Select | ENSP00000342800.5:p.Ile733AlafsTer2 | |
| ENST00000070846.10:c.2329_2334delinsG | ENSP00000070846.6:p.Ile777AlafsTer2 | |
| ENST00000340811.8:c.2197_2202delinsG | ENSP00000342800.4:p.Ile733AlafsTer2 | |
| ENST00000613243.1:c.2329_2334delinsG | ENSP00000478295.1:p.Ile777AlafsTer2 | |
| NM_001005242.2:c.2197_2202delinsG | NP_001005242.2:p.Ile733AlafsTer2 | |
| NM_004572.3:c.2329_2334delinsG , LRG_398t1:c.2329_2334delinsG | NP_004563.2:p.Ile777AlafsTer2 | |
| NM_001005242.3:c.2197_2202delinsG MANE Select | NP_001005242.2:p.Ile733AlafsTer2 | |
| NM_004572.4:c.2329_2334delinsG | NP_004563.2:p.Ile777AlafsTer2 |