Linked Data
ClinVar Variation Id:
1419747
ClinVar RCV Id:
RCV001910587
dbSNP Id:
rs2138869609
gnomAD v4:
14-24081412-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081413del , CM000676.2:g.24081413del | GRCh38 |
| NC_000014.8:g.24550622del , CM000676.1:g.24550622del | GRCh37 |
| NC_000014.7:g.23620462del | NCBI36 |
| NG_011697.1:g.8211del | |
| NG_011697.2:g.38602del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.537del MANE Select | ENSP00000454062.2:p.Lys179AsnfsTer? | |
| ENST00000396995.1:c.120del | ENSP00000380191.1:p.Lys40AsnfsTer? | |
| ENST00000396997.1:c.537del | ENSP00000380193.1:p.Lys179AsnfsTer? | |
| ENST00000397002.6:c.537del | ENSP00000380197.2:p.Lys179AsnfsTer? | |
| ENST00000560550.1:c.120del | ENSP00000452966.1:p.Lys40AsnfsTer? | |
| ENST00000561028.5:c.537del | ENSP00000454062.1:p.Lys179AsnfsTer? | |
| NM_006177.3:c.537del | NP_006168.1:p.Lys179AsnfsTer? | |
| XM_005267708.3:c.537del | XP_005267765.1:p.Lys179AsnfsTer? | |
| XM_005267709.3:c.537del | XP_005267766.1:p.Lys179AsnfsTer? | |
| XM_005267710.3:c.537del | XP_005267767.1:p.Lys179AsnfsTer? | |
| XM_011536801.1:c.636del | XP_011535103.1:p.Lys212AsnfsTer? | |
| XM_011536802.1:c.537del | XP_011535104.1:p.Lys179AsnfsTer? | |
| XM_011536803.1:c.537del | XP_011535105.1:p.Lys179AsnfsTer? | |
| XM_011536804.1:c.537del | XP_011535106.1:p.Lys179AsnfsTer? | |
| XM_011536805.1:c.537del | XP_011535107.1:p.Lys179AsnfsTer? | |
| XM_011536806.1:c.321del | XP_011535108.1:p.Lys107AsnfsTer? | |
| NM_001354768.1:c.537del | NP_001341697.1:p.Lys179AsnfsTer? | |
| NM_001354769.1:c.537del | NP_001341698.1:p.Lys179AsnfsTer? | |
| NM_001354770.1:c.222del | NP_001341699.1:p.Lys74AsnfsTer? | |
| NM_006177.4:c.537del | NP_006168.1:p.Lys179AsnfsTer? | |
| XM_011536801.2:c.843del | XP_011535103.2:p.Lys281AsnfsTer? | |
| XM_011536804.2:c.537del | XP_011535106.1:p.Lys179AsnfsTer? | |
| XM_011536805.2:c.537del | XP_011535107.1:p.Lys179AsnfsTer? | |
| XM_011536806.2:c.528del | XP_011535108.2:p.Lys176AsnfsTer? | |
| NM_001354768.3:c.537del MANE Select | NP_001341697.1:p.Lys179AsnfsTer? | |
| NM_001354770.2:c.222del | NP_001341699.1:p.Lys74AsnfsTer? | |
| NM_006177.5:c.537del | NP_006168.1:p.Lys179AsnfsTer? |