ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80654962_80654964delinsGTG , CM000667.2:g.80654962_80654964delinsGTG | GRCh38 |
| NC_000005.9:g.79950781_79950783delinsGTG , CM000667.1:g.79950781_79950783delinsGTG | GRCh37 |
| NC_000005.8:g.79986537_79986539delinsGTG | NCBI36 |
| NG_016607.1:g.5488_5490delinsGTG | |
| NG_023304.1:g.5018_5020delinsCAC | |
| NG_016607.2:g.5488_5490delinsGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.235_237delinsGTG (MSH3) MANE Select | ENSP00000265081.6:p.Ile79Val | |
| ENST00000439211.7:c.-475_-473delinsCAC (DHFR) MANE Select | ENSP00000396308.2:n.-475_-473delinsCAC | |
| ENST00000667069.1:c.235_237delinsGTG (MSH3) | ENSP00000499502.1:p.Ile79Val | |
| ENST00000670357.1:c.235_237delinsGTG (MSH3) | ENSP00000499791.1:p.Ile79Val | |
| ENST00000265081.6:c.235_237delinsGTG (MSH3) | ENSP00000265081.6:p.Ile79Val | |
| ENST00000439211.6:c.-475_-473delinsCAC (DHFR) | ENSP00000396308.2:n.-475_-473delinsCAC | |
| NM_000791.3:c.-475_-473delinsCAC (DHFR) | NP_000782.1:n.-475_-473delinsCAC | |
| NM_001290354.1:c.-581_-579delinsCAC (DHFR) | NP_001277283.1:n.-581_-579delinsCAC | |
| NM_001290357.1:c.-475_-473delinsCAC (DHFR) | NP_001277286.1:n.-475_-473delinsCAC | |
| NM_002439.4:c.235_237delinsGTG (MSH3) | NP_002430.3:p.Ile79Val | |
| NR_110936.1:n.18_20delinsCAC (DHFR) | ||
| NM_000791.4:c.-475_-473delinsCAC (DHFR) MANE Select | NP_000782.1:n.-475_-473delinsCAC | |
| NM_002439.5:c.235_237delinsGTG (MSH3) MANE Select | NP_002430.3:p.Ile79Val | |
| NM_001290354.2:c.-581_-579delinsCAC (DHFR) | NP_001277283.1:n.-581_-579delinsCAC | |
| NM_001290357.2:c.-475_-473delinsCAC (DHFR) | NP_001277286.1:n.-475_-473delinsCAC | |
| NR_110936.2:n.20_22delinsCAC (DHFR) |