Linked Data
ClinVar Variation Id:
371649
ClinVar RCV Id:
RCV000410296
dbSNP Id:
rs1057517440
gnomAD v4:
18-23950091-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23950092del , CM000680.2:g.23950092del | GRCh38 |
| NC_000018.9:g.21530056del , CM000680.1:g.21530056del | GRCh37 |
| NC_000018.8:g.19784054del | NCBI36 |
| NG_007853.2:g.265495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.4748del MANE Plus Clinical | ENSP00000269217.5:p.Thr1583MetfsTer4 | |
| ENST00000313654.14:c.9575del MANE Select | ENSP00000324532.8:p.Thr3192MetfsTer4 | |
| ENST00000649721.1:c.6170del | ENSP00000497885.1:p.Thr2057MetfsTer4 | |
| ENST00000269217.10:c.4748del | ENSP00000269217.5:p.Thr1583MetfsTer4 | |
| ENST00000313654.13:c.9575del | ENSP00000324532.8:p.Thr3192MetfsTer4 | |
| ENST00000399516.7:c.9407del | ENSP00000382432.2:p.Thr3136MetfsTer4 | |
| ENST00000587184.5:c.4580del | ENSP00000466557.1:p.Thr1527MetfsTer4 | |
| ENST00000588004.1:c.96del | ||
| ENST00000588770.5:n.4153del | ||
| NM_000227.4:c.4748del | NP_000218.3:p.Thr1583MetfsTer4 | |
| NM_001127717.2:c.9407del | NP_001121189.2:p.Thr3136MetfsTer4 | |
| NM_001127718.2:c.4580del | NP_001121190.2:p.Thr1527MetfsTer4 | |
| NM_198129.2:c.9575del | NP_937762.2:p.Thr3192MetfsTer4 | |
| XM_011525978.1:c.9602del | XP_011524280.1:p.Thr3201MetfsTer4 | |
| XM_011525979.1:c.9593del | XP_011524281.1:p.Thr3198MetfsTer4 | |
| XM_011525980.1:c.9584del | XP_011524282.1:p.Thr3195MetfsTer4 | |
| XM_011525981.1:c.9470del | XP_011524283.1:p.Thr3157MetfsTer4 | |
| XM_011525982.1:c.9305del | XP_011524284.1:p.Thr3102MetfsTer4 | |
| XM_011525978.2:c.9602del | XP_011524280.1:p.Thr3201MetfsTer4 | |
| XM_011525979.2:c.9593del | XP_011524281.1:p.Thr3198MetfsTer4 | |
| XM_011525980.2:c.9584del | XP_011524282.1:p.Thr3195MetfsTer4 | |
| XM_011525981.2:c.9470del | XP_011524283.1:p.Thr3157MetfsTer4 | |
| XM_011525982.2:c.9305del | XP_011524284.1:p.Thr3102MetfsTer4 | |
| XM_017025743.1:c.7454del | XP_016881232.1:p.Thr2485MetfsTer4 | |
| XM_017025744.1:c.5144del | XP_016881233.1:p.Thr1715MetfsTer4 | |
| XR_001753199.1:n.9843del | ||
| NM_000227.5:c.4748del | NP_000218.3:p.Thr1583MetfsTer4 | |
| NM_001127717.3:c.9407del | NP_001121189.2:p.Thr3136MetfsTer4 | |
| NM_001127718.3:c.4580del | NP_001121190.2:p.Thr1527MetfsTer4 | |
| NM_198129.3:c.9575del | NP_937762.2:p.Thr3192MetfsTer4 | |
| NM_000227.6:c.4748del MANE Plus Clinical | NP_000218.3:p.Thr1583MetfsTer4 | |
| NM_001127717.4:c.9407del | NP_001121189.2:p.Thr3136MetfsTer4 | |
| NM_001127718.4:c.4580del | NP_001121190.2:p.Thr1527MetfsTer4 | |
| NM_198129.4:c.9575del MANE Select | NP_937762.2:p.Thr3192MetfsTer4 |