Linked Data
ClinVar Variation Id:
201686
ClinVar RCV Id:
RCV000183323
dbSNP Id:
rs794728981
gnomAD v3:
10-119676819-TGCTGAAAGTG-T
gnomAD v4:
10-119676819-TGCTGAAAGTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676821_119676830del , CM000672.2:g.119676821_119676830del | GRCh38 |
| NC_000010.10:g.121436333_121436342del , CM000672.1:g.121436333_121436342del | GRCh37 |
| NC_000010.9:g.121426323_121426332del | NCBI36 |
| NG_016125.1:g.30452_30461del , LRG_742:g.30452_30461del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369085.8:c.1267_1276del MANE Select | ENSP00000358081.4:p.Leu423LysfsTer14 | |
| ENST00000369085.7:c.1267_1276del | ENSP00000358081.3:p.Leu423LysfsTer14 | |
| NM_004281.3:c.1267_1276del , LRG_742t1:c.1267_1276del | NP_004272.2:p.Leu423LysfsTer14 | |
| XM_005270287.1:c.1264_1273del | XP_005270344.1:p.Leu422LysfsTer14 | |
| XM_005270287.2:c.1264_1273del | XP_005270344.1:p.Leu422LysfsTer14 | |
| NM_004281.4:c.1267_1276del MANE Select | NP_004272.2:p.Leu423LysfsTer14 |