Linked Data
ClinVar Variation Id:
2498386
ClinVar RCV Id:
RCV003222595
dbSNP Id:
rs1715175891
gnomAD v2:
4-996521-TGAG-T
gnomAD v3:
4-1002733-TGAG-T
gnomAD v4:
4-1002733-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002737_1002739del , CM000666.2:g.1002737_1002739del | GRCh38 |
| NC_000004.11:g.996525_996527del , CM000666.1:g.996525_996527del | GRCh37 |
| NC_000004.10:g.986525_986527del | NCBI36 |
| NG_008103.1:g.20741_20743del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1195_1197del | ENSP00000247933.4:p.Glu399del | |
| ENST00000514224.2:c.1195_1197del MANE Select | ENSP00000425081.2:p.Glu399del | |
| ENST00000652070.1:n.1251_1253del | ||
| ENST00000247933.8:c.1195_1197del | ENSP00000247933.4:p.Glu399del | |
| ENST00000514224.1:c.799_801del | ENSP00000425081.1:p.Glu267del | |
| ENST00000514698.5:n.1302_1304del | ||
| NM_000203.4:c.1195_1197del | NP_000194.2:p.Glu399del | |
| NR_110313.1:n.1283_1285del | ||
| XM_006713882.2:c.799_801del | XP_006713945.1:p.Glu267del | |
| XM_011513459.1:c.1261_1263del | XP_011511761.1:p.Glu421del | |
| XM_011513460.1:c.1054_1056del | XP_011511762.1:p.Glu352del | |
| XM_011513461.1:c.988_990del | XP_011511763.1:p.Glu330del | |
| XM_011513462.1:c.907_909del | XP_011511764.1:p.Glu303del | |
| XM_011513463.1:c.907_909del | XP_011511765.1:p.Glu303del | |
| XR_924947.1:n.1264_1266del | ||
| NM_000203.5:c.1195_1197del MANE Select | NP_000194.2:p.Glu399del | |
| NM_001363576.1:c.799_801del | NP_001350505.1:p.Glu267del | |
| XM_011513461.2:c.988_990del | XP_011511763.1:p.Glu330del | |
| XM_017008163.1:c.235_237del | XP_016863652.1:p.Glu79del |