Linked Data
ClinVar Variation Id:
374434
ClinVar RCV Id:
RCV000416229
dbSNP Id:
rs1057519098
gnomAD v4:
18-11753638-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.11753640_11753641del , CM000680.2:g.11753640_11753641del | GRCh38 |
| NC_000018.9:g.11753639_11753640del , CM000680.1:g.11753639_11753640del | GRCh37 |
| NC_000018.8:g.11743639_11743640del | NCBI36 |
| NG_033866.1:g.69626_69627del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334049.11:c.462_463del MANE Select | ENSP00000334051.5:p.Lys155AsnfsTer9 | |
| ENST00000423027.8:c.231_232del MANE Plus Clinical | ENSP00000408489.2:p.Lys78AsnfsTer9 | |
| ENST00000269162.9:c.231_232del | ENSP00000269162.4:p.Lys78AsnfsTer9 | |
| ENST00000334049.10:c.462_463del | ENSP00000334051.5:p.Lys155AsnfsTer9 | |
| ENST00000423027.7:c.231_232del | ENSP00000408489.2:p.Lys78AsnfsTer9 | |
| ENST00000535121.5:c.231_232del | ENSP00000439023.1:p.Lys78AsnfsTer9 | |
| ENST00000585642.5:c.48_49del | ENSP00000467345.1:p.Lys17AsnfsTer9 | |
| ENST00000590228.1:c.-58_-57del | ENSP00000467709.1:n.-58_-57del | |
| ENST00000590972.1:n.55_56del | ||
| NM_001142339.2:c.231_232del | NP_001135811.1:p.Lys78AsnfsTer9 | |
| NM_001261443.1:c.231_232del | NP_001248372.1:p.Lys78AsnfsTer9 | |
| NM_182978.3:c.462_463del | NP_892023.1:p.Lys155AsnfsTer9 | |
| XM_006722323.2:c.231_232del | XP_006722386.1:p.Lys78AsnfsTer9 | |
| XM_006722324.1:c.462_463del | XP_006722387.1:p.Lys155AsnfsTer9 | |
| XM_011525654.1:c.231_232del | XP_011523956.1:p.Lys78AsnfsTer9 | |
| XM_006722324.3:c.462_463del | XP_006722387.1:p.Lys155AsnfsTer9 | |
| XM_024451164.1:c.231_232del | XP_024306932.1:p.Lys78AsnfsTer9 | |
| NM_182978.4:c.462_463del MANE Select | NP_892023.1:p.Lys155AsnfsTer9 | |
| NM_001369387.1:c.231_232del MANE Plus Clinical | NP_001356316.1:p.Lys78AsnfsTer9 | |
| NM_001142339.3:c.231_232del | NP_001135811.1:p.Lys78AsnfsTer9 | |
| NM_001261443.2:c.231_232del | NP_001248372.1:p.Lys78AsnfsTer9 |