Linked Data
ClinVar Variation Id:
554834
ClinVar RCV Id:
RCV000670532
dbSNP Id:
rs771395982
ExAC:
6:131904951 GA / G
gnomAD v2:
6-131904951-GA-G
gnomAD v4:
6-131583811-GA-G
MyVariant Identifiers:
chr6:g.131904952del (hg19)
chr6:g.131583813del (hg38)
chr6:g.131583812del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583813del , CM000668.2:g.131583813del | GRCh38 |
| NC_000006.11:g.131904953del , CM000668.1:g.131904953del | GRCh37 |
| NC_000006.10:g.131946646del | NCBI36 |
| NG_007086.2:g.15589del | |
| NG_031860.1:g.49412del | |
| NG_031860.2:g.49412del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368087.8:c.874del (ARG1) MANE Select | ENSP00000357066.3:p.Thr292GlnfsTer2 | |
| ENST00000640973.1:c.616del (ARG1) | ENSP00000492623.1:p.Thr206GlnfsTer2 | |
| ENST00000672233.1:c.820del (ARG1) | ENSP00000499826.1:p.Thr274GlnfsTer2 | |
| ENST00000673234.1:c.*761del (ARG1) | ENSP00000499885.1:n.*761del | |
| ENST00000673427.1:c.619del (ARG1) | ENSP00000500160.1:p.Thr207GlnfsTer2 | |
| ENST00000354577.8:c.4095+3897del (MED23) | ENSP00000346588.4:n.4095+3897del | |
| ENST00000356962.2:c.898del (ARG1) | ENSP00000349446.2:p.Thr300GlnfsTer2 | |
| ENST00000368087.7:c.874del (ARG1) | ENSP00000357066.3:p.Thr292GlnfsTer2 | |
| NM_000045.3:c.874del (ARG1) | NP_000036.2:p.Thr292GlnfsTer2 | |
| NM_001244438.1:c.898del (ARG1) | NP_001231367.1:p.Thr300GlnfsTer2 | |
| NM_001270521.1:c.4077+3897del (MED23) | NP_001257450.1:n.4077+3897del | |
| NM_015979.3:c.4095+3897del (MED23) | NP_057063.2:n.4095+3897del | |
| XM_011535801.1:c.619del (ARG1) | XP_011534103.1:p.Thr207GlnfsTer2 | |
| XM_011535801.2:c.619del (ARG1) | XP_011534103.1:p.Thr207GlnfsTer2 | |
| NM_000045.4:c.874del (ARG1) MANE Select | NP_000036.2:p.Thr292GlnfsTer2 | |
| NM_001244438.2:c.898del (ARG1) | NP_001231367.1:p.Thr300GlnfsTer2 | |
| NM_001270521.2:c.4077+3897del (MED23) | NP_001257450.1:n.4077+3897del | |
| NM_001369020.1:c.619del (ARG1) | NP_001355949.1:p.Thr207GlnfsTer2 | |
| NM_015979.4:c.4095+3897del (MED23) | NP_057063.2:n.4095+3897del | |
| NR_160934.1:n.858del (ARG1) |