Linked Data
ClinVar Variation Id:
213897
ClinVar RCV Id:
RCV001341631
dbSNP Id:
rs863223830
gnomAD v2:
9-101900267-TCTC-T
gnomAD v4:
9-99137985-TCTC-T
COSMIC:
COSM5731502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99137989_99137991del , CM000671.2:g.99137989_99137991del | GRCh38 |
| NC_000009.11:g.101900271_101900273del , CM000671.1:g.101900271_101900273del | GRCh37 |
| NC_000009.10:g.100940092_100940094del | NCBI36 |
| NG_007461.1:g.37860_37862del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547314.6:c.498_500del | ENSP00000449934.2:p.Ser167del | |
| ENST00000552573.7:c.510_512del | ENSP00000447182.3:p.Ser171del | |
| ENST00000548365.6:c.380-4547_380-4545del | ENSP00000448518.2:n.380-4547_380-4545del | |
| ENST00000549021.6:c.267_269del | ENSP00000449028.2:p.Ser90del | |
| ENST00000698941.1:c.510_512del | ENSP00000514048.1:p.Ser171del | |
| ENST00000698942.1:c.*501_*503del | ENSP00000514049.1:n.*501_*503del | |
| ENST00000374994.9:c.705_707del MANE Select | ENSP00000364133.4:p.Ser236del | |
| ENST00000374990.6:c.474_476del | ENSP00000364129.2:p.Ser159del | |
| ENST00000374994.8:c.705_707del | ENSP00000364133.4:p.Ser236del | |
| ENST00000549021.5:c.267_269del | ENSP00000449028.1:p.Ser90del | |
| ENST00000549766.5:c.717_719del | ENSP00000446685.1:p.Ser240del | |
| ENST00000550253.1:c.498_500del | ENSP00000450052.1:p.Ser167del | |
| ENST00000552516.5:c.717_719del | ENSP00000447297.1:p.Ser240del | |
| NM_001130916.1:c.474_476del | NP_001124388.1:p.Ser159del | |
| NM_001130916.2:c.474_476del | NP_001124388.1:p.Ser159del | |
| NM_001306210.1:c.717_719del | NP_001293139.1:p.Ser240del | |
| NM_004612.2:c.705_707del | NP_004603.1:p.Ser236del | |
| NM_004612.3:c.705_707del | NP_004603.1:p.Ser236del | |
| XM_011518948.1:c.510_512del | XP_011517250.1:p.Ser171del | |
| XM_011518949.1:c.498_500del | XP_011517251.1:p.Ser167del | |
| XM_011518950.1:c.267_269del | XP_011517252.1:p.Ser90del | |
| XM_011518948.2:c.510_512del | XP_011517250.1:p.Ser171del | |
| XM_011518949.2:c.498_500del | XP_011517251.1:p.Ser167del | |
| XM_011518950.2:c.267_269del | XP_011517252.1:p.Ser90del | |
| XM_017015063.1:c.510_512del | XP_016870552.1:p.Ser171del | |
| XM_024447658.1:c.498_500del | XP_024303426.1:p.Ser167del | |
| NM_004612.4:c.705_707del MANE Select | NP_004603.1:p.Ser236del | |
| NM_001130916.3:c.474_476del | NP_001124388.1:p.Ser159del | |
| NM_001306210.2:c.717_719del | NP_001293139.1:p.Ser240del |