Linked Data
ClinVar Variation Id:
16844
dbSNP Id:
rs397514040
gnomAD v4:
6-7583351-CTT-C
PubMed:
PMID:16175511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583353_7583354del , CM000668.2:g.7583353_7583354del | GRCh38 |
| NC_000006.11:g.7583586_7583587del , CM000668.1:g.7583586_7583587del | GRCh37 |
| NC_000006.10:g.7528585_7528586del | NCBI36 |
| NG_008803.1:g.46717_46718del , LRG_423:g.46717_46718del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.4762_4763del | ENSP00000518230.1:p.Leu1588GlyfsTer29 | |
| ENST00000379802.8:c.6091_6092del MANE Select | ENSP00000369129.3:p.Leu2031GlyfsTer29 | |
| ENST00000379802.7:c.6091_6092del | ENSP00000369129.3:p.Leu2031GlyfsTer29 | |
| ENST00000418664.2:c.4294_4295del | ENSP00000396591.2:p.Leu1432GlyfsTer29 | |
| NM_001008844.1:c.4294_4295del | NP_001008844.1:p.Leu1432GlyfsTer29 | |
| NM_004415.2:c.6091_6092del , LRG_423t1:c.6091_6092del | NP_004406.2:p.Leu2031GlyfsTer29 | |
| XM_011514323.1:c.4762_4763del | XP_011512625.1:p.Leu1588GlyfsTer29 | |
| NM_001008844.2:c.4294_4295del | NP_001008844.1:p.Leu1432GlyfsTer29 | |
| NM_001319034.1:c.4762_4763del | NP_001305963.1:p.Leu1588GlyfsTer29 | |
| NM_004415.3:c.6091_6092del | NP_004406.2:p.Leu2031GlyfsTer29 | |
| NM_004415.4:c.6091_6092del MANE Select | NP_004406.2:p.Leu2031GlyfsTer29 | |
| NM_001008844.3:c.4294_4295del | NP_001008844.1:p.Leu1432GlyfsTer29 | |
| NM_001319034.2:c.4762_4763del | NP_001305963.1:p.Leu1588GlyfsTer29 |