Linked Data
ClinVar Variation Id:
2895651
ClinVar RCV Id:
RCV003603539
dbSNP Id:
rs749072942
gnomAD v2:
6-131904316-TTGTGTGTGCACACA-T
gnomAD v4:
6-131583176-TTGTGTGTGCACACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131583187_131583200del , CM000668.2:g.131583187_131583200del | GRCh38 |
| NC_000006.11:g.131904327_131904340del , CM000668.1:g.131904327_131904340del | GRCh37 |
| NC_000006.10:g.131946020_131946033del | NCBI36 |
| NG_007086.2:g.14963_14976del | |
| NG_031860.1:g.50034_50047del | |
| NG_031860.2:g.50034_50047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368087.8:c.665+23_665+36del (ARG1) MANE Select | ENSP00000357066.3:n.665+23_665+36del | |
| ENST00000640973.1:c.604+84_604+97del (ARG1) | ENSP00000492623.1:n.604+84_604+97del | |
| ENST00000672233.1:c.611+23_611+36del (ARG1) | ENSP00000499826.1:n.611+23_611+36del | |
| ENST00000673234.1:c.*552+23_*552+36del (ARG1) | ENSP00000499885.1:n.*552+23_*552+36del | |
| ENST00000673427.1:c.410+23_410+36del (ARG1) | ENSP00000500160.1:n.410+23_410+36del | |
| ENST00000275196.5:n.649+23_649+36del (ARG1) | ||
| ENST00000354577.8:c.4095+4519_4095+4532del (MED23) | ENSP00000346588.4:n.4095+4519_4095+4532del | |
| ENST00000356962.2:c.689+23_689+36del (ARG1) | ENSP00000349446.2:n.689+23_689+36del | |
| ENST00000368087.7:c.665+23_665+36del (ARG1) | ENSP00000357066.3:n.665+23_665+36del | |
| NM_000045.3:c.665+23_665+36del (ARG1) | NP_000036.2:n.665+23_665+36del | |
| NM_001244438.1:c.689+23_689+36del (ARG1) | NP_001231367.1:n.689+23_689+36del | |
| NM_001270521.1:c.4077+4519_4077+4532del (MED23) | NP_001257450.1:n.4077+4519_4077+4532del | |
| NM_015979.3:c.4095+4519_4095+4532del (MED23) | NP_057063.2:n.4095+4519_4095+4532del | |
| XM_011535801.1:c.410+23_410+36del (ARG1) | XP_011534103.1:n.410+23_410+36del | |
| XM_011535801.2:c.410+23_410+36del (ARG1) | XP_011534103.1:n.410+23_410+36del | |
| NM_000045.4:c.665+23_665+36del (ARG1) MANE Select | NP_000036.2:n.665+23_665+36del | |
| NM_001244438.2:c.689+23_689+36del (ARG1) | NP_001231367.1:n.689+23_689+36del | |
| NM_001270521.2:c.4077+4519_4077+4532del (MED23) | NP_001257450.1:n.4077+4519_4077+4532del | |
| NM_001369020.1:c.410+23_410+36del (ARG1) | NP_001355949.1:n.410+23_410+36del | |
| NM_015979.4:c.4095+4519_4095+4532del (MED23) | NP_057063.2:n.4095+4519_4095+4532del | |
| NR_160934.1:n.649+23_649+36del (ARG1) |