Linked Data
ClinVar Variation Id:
1691485
ClinVar RCV Id:
RCV002254820
dbSNP Id:
rs2143429292
gnomAD v4:
17-44374699-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44374700del , CM000679.2:g.44374700del | GRCh38 |
| NC_000017.10:g.42452068del , CM000679.1:g.42452068del | GRCh37 |
| NC_000017.9:g.39807594del | NCBI36 |
| NG_008331.1:g.19806del , LRG_479:g.19806del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2902del MANE Select | ENSP00000262407.5:p.Tyr968MetfsTer? | |
| ENST00000648408.1:c.2333del | ||
| ENST00000262407.5:c.2902del | ENSP00000262407.5:p.Tyr968MetfsTer? | |
| ENST00000587295.5:c.253+1133del | ||
| ENST00000592462.5:n.2413del | ||
| NM_000419.3:c.2902del , LRG_479t1:c.2902del | NP_000410.2:p.Tyr968MetfsTer? | |
| XM_011524749.1:c.2842-230del | XP_011523051.1:n.2842-230del | |
| XM_011524750.1:c.2902del | XP_011523052.1:p.Tyr968MetfsTer? | |
| NM_000419.4:c.2902del | NP_000410.2:p.Tyr968MetfsTer? | |
| NM_000419.5:c.2902del MANE Select | NP_000410.2:p.Tyr968MetfsTer? |