Linked Data
ClinVar Variation Id:
1366297
ClinVar RCV Id:
RCV001930087
dbSNP Id:
rs754137583
ExAC:
3:49160587 CT / C
gnomAD v2:
3-49160587-CT-C
gnomAD v4:
3-49123154-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123155del , CM000665.2:g.49123155del | GRCh38 |
| NC_000003.11:g.49160588del , CM000665.1:g.49160588del | GRCh37 |
| NC_000003.10:g.49135592del | NCBI36 |
| NG_008094.1:g.15012del | |
| NG_054716.1:g.2784del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4201del MANE Select | ENSP00000307156.4:p.Ser1401AlafsTer2 | |
| ENST00000305544.8:c.4201del | ENSP00000307156.4:p.Ser1401AlafsTer2 | |
| ENST00000418109.5:c.4201del | ENSP00000388325.1:p.Ser1401AlafsTer2 | |
| ENST00000469665.1:n.431del | ||
| NM_002292.3:c.4201del | NP_002283.3:p.Ser1401AlafsTer2 | |
| XM_005265127.3:c.4201del | XP_005265184.1:p.Ser1401AlafsTer2 | |
| XM_005265127.4:c.4201del | XP_005265184.1:p.Ser1401AlafsTer2 | |
| NM_002292.4:c.4201del MANE Select | NP_002283.3:p.Ser1401AlafsTer2 |