Linked Data
ClinVar Variation Id:
2974263
ClinVar RCV Id:
RCV003835901
dbSNP Id:
rs958422181
gnomAD v2:
4-25160748-CTT-C
gnomAD v3:
4-25159126-CTT-C
gnomAD v4:
4-25159126-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25159127_25159128del , CM000666.2:g.25159127_25159128del | GRCh38 |
| NC_000004.11:g.25160749_25160750del , CM000666.1:g.25160749_25160750del | GRCh37 |
| NC_000004.10:g.24769847_24769848del | NCBI36 |
| NG_028222.1:g.6455_6456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.115-21_115-20del MANE Select | ENSP00000371535.2:n.115-21_115-20del | |
| ENST00000680581.1:c.115-21_115-20del | ENSP00000506483.1:n.115-21_115-20del | |
| ENST00000680824.1:n.1310_1311del | ||
| ENST00000681166.1:n.1141_1142del | ||
| ENST00000681341.1:n.1235_1236del | ||
| ENST00000681640.1:n.209-21_209-20del | ||
| ENST00000681948.1:c.370-21_370-20del | ENSP00000505991.1:n.370-21_370-20del | |
| ENST00000358971.7:c.252-21_252-20del | ENSP00000351857.3:n.252-21_252-20del | |
| ENST00000382103.6:c.115-21_115-20del | ENSP00000371535.2:n.115-21_115-20del | |
| ENST00000513285.1:c.370-21_370-20del | ENSP00000423361.1:n.370-21_370-20del | |
| ENST00000514585.5:c.114+1128_114+1129del | ENSP00000421880.1:n.114+1128_114+1129del | |
| NM_016955.3:c.115-21_115-20del | NP_058651.3:n.115-21_115-20del | |
| XM_005248168.2:c.32+1128_32+1129del | XP_005248225.1:n.32+1128_32+1129del | |
| XM_006713965.2:c.-66-21_-66-20del | XP_006714028.1:n.-66-21_-66-20del | |
| XM_011513846.1:c.112-21_112-20del | XP_011512148.1:n.112-21_112-20del | |
| XM_011513847.1:c.82-21_82-20del | XP_011512149.1:n.82-21_82-20del | |
| XM_011513848.1:c.-66-21_-66-20del | XP_011512150.1:n.-66-21_-66-20del | |
| XM_011513846.2:c.112-21_112-20del | XP_011512148.1:n.112-21_112-20del | |
| XM_011513847.2:c.82-21_82-20del | XP_011512149.1:n.82-21_82-20del | |
| XM_017008277.1:c.370-21_370-20del | XP_016863766.1:n.370-21_370-20del | |
| XM_017008278.1:c.-332-21_-332-20del | XP_016863767.1:n.-332-21_-332-20del | |
| NM_016955.4:c.115-21_115-20del MANE Select | NP_058651.3:n.115-21_115-20del |