Linked Data
ClinVar Variation Id:
555762
ClinVar RCV Id:
RCV000671642
dbSNP Id:
rs1554251368
gnomAD v4:
6-131583894-AACCC-A
MyVariant Identifiers:
chr6:g.131583898_131583901del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583898_131583901del , CM000668.2:g.131583898_131583901del | GRCh38 |
| NC_000006.11:g.131905038_131905041del , CM000668.1:g.131905038_131905041del | GRCh37 |
| NC_000006.10:g.131946731_131946734del | NCBI36 |
| NG_007086.2:g.15674_15677del | |
| NG_031860.1:g.49326_49329del | |
| NG_031860.2:g.49326_49329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.959_962del (ARG1) MANE Select | ENSP00000357066.3:p.Pro320LeufsTer14 | |
| ENST00000640973.1:c.701_704del (ARG1) | ENSP00000492623.1:p.Pro234LeufsTer? | |
| ENST00000672233.1:c.905_908del (ARG1) | ENSP00000499826.1:p.Pro302LeufsTer14 | |
| ENST00000673234.1:c.*846_*849del (ARG1) | ENSP00000499885.1:n.*846_*849del | |
| ENST00000673427.1:c.704_707del (ARG1) | ENSP00000500160.1:p.Pro235LeufsTer14 | |
| ENST00000354577.8:c.4095+3811_4095+3814del (MED23) | ENSP00000346588.4:n.4095+3811_4095+3814del | |
| ENST00000356962.2:c.983_986del (ARG1) | ENSP00000349446.2:p.Pro328LeufsTer14 | |
| ENST00000368087.7:c.959_962del (ARG1) | ENSP00000357066.3:p.Pro320LeufsTer14 | |
| NM_000045.3:c.959_962del (ARG1) | NP_000036.2:p.Pro320LeufsTer14 | |
| NM_001244438.1:c.983_986del (ARG1) | NP_001231367.1:p.Pro328LeufsTer14 | |
| NM_001270521.1:c.4077+3811_4077+3814del (MED23) | NP_001257450.1:n.4077+3811_4077+3814del | |
| NM_015979.3:c.4095+3811_4095+3814del (MED23) | NP_057063.2:n.4095+3811_4095+3814del | |
| XM_011535801.1:c.704_707del (ARG1) | XP_011534103.1:p.Pro235LeufsTer14 | |
| XM_011535801.2:c.704_707del (ARG1) | XP_011534103.1:p.Pro235LeufsTer14 | |
| NM_000045.4:c.959_962del (ARG1) MANE Select | NP_000036.2:p.Pro320LeufsTer14 | |
| NM_001244438.2:c.983_986del (ARG1) | NP_001231367.1:p.Pro328LeufsTer14 | |
| NM_001270521.2:c.4077+3811_4077+3814del (MED23) | NP_001257450.1:n.4077+3811_4077+3814del | |
| NM_001369020.1:c.704_707del (ARG1) | NP_001355949.1:p.Pro235LeufsTer14 | |
| NM_015979.4:c.4095+3811_4095+3814del (MED23) | NP_057063.2:n.4095+3811_4095+3814del | |
| NR_160934.1:n.943_946del (ARG1) |