Linked Data
ClinVar Variation Id:
591283
ClinVar RCV Id:
RCV000722461
dbSNP Id:
rs1566906885
gnomAD v4:
15-30905333-G-GAGTGCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30905334_30905340dup , CM000677.2:g.30905334_30905340dup | GRCh38 |
| NC_000015.9:g.31197537_31197543dup , CM000677.1:g.31197537_31197543dup | GRCh37 |
| NC_000015.8:g.28984829_28984835dup | NCBI36 |
| NG_032946.1:g.6483_6489dup | |
| NG_032946.2:g.6483_6489dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362065.9:c.671_677dup MANE Select | ENSP00000354497.4:p.Pro227ValfsTer4 | |
| ENST00000561607.6:c.671_677dup | ENSP00000454223.1:p.Pro227ValfsTer4 | |
| ENST00000562892.2:c.-57+744_-57+750dup | ENSP00000457680.2:n.-57+744_-57+750dup | |
| ENST00000568145.6:n.110+744_110+750dup | ||
| ENST00000602886.2:n.848_854dup | ||
| ENST00000654013.1:n.947_953dup | ||
| ENST00000654056.1:c.-57+744_-57+750dup | ENSP00000499726.1:n.-57+744_-57+750dup | |
| ENST00000655421.1:n.942_948dup | ||
| ENST00000656109.1:n.179+744_179+750dup | ||
| ENST00000656307.1:n.923_929dup | ||
| ENST00000656435.1:c.671_677dup | ENSP00000499534.1:p.Pro227ValfsTer4 | |
| ENST00000657391.1:c.671_677dup | ENSP00000499703.1:p.Pro227ValfsTer4 | |
| ENST00000658773.1:c.671_677dup | ENSP00000499742.1:p.Pro227ValfsTer4 | |
| ENST00000661974.1:c.165_171dup | ||
| ENST00000662114.1:n.927_933dup | ||
| ENST00000664070.1:c.671_677dup | ENSP00000499478.1:p.Pro227ValfsTer4 | |
| ENST00000664837.1:c.-57+744_-57+750dup | ENSP00000499780.1:n.-57+744_-57+750dup | |
| ENST00000665705.1:n.910_916dup | ||
| ENST00000665894.1:n.931_937dup | ||
| ENST00000666143.1:c.-229-391_-229-385dup | ENSP00000499576.1:n.-229-391_-229-385dup | |
| ENST00000666852.1:n.923_929dup | ||
| ENST00000667837.1:n.946_952dup | ||
| ENST00000670074.1:c.671_677dup | ENSP00000499252.1:p.Pro227ValfsTer4 | |
| ENST00000670849.1:c.671_677dup | ENSP00000499638.1:p.Pro227ValfsTer4 | |
| ENST00000362065.8:c.671_677dup | ENSP00000354497.4:p.Pro227ValfsTer4 | |
| ENST00000561594.5:c.671_677dup | ENSP00000455983.1:p.Pro227ValfsTer4 | |
| ENST00000561607.5:c.671_677dup | ENSP00000454223.1:p.Pro227ValfsTer4 | |
| ENST00000562892.1:c.52+744_52+750dup | ENSP00000457680.1:n.52+744_52+750dup | |
| ENST00000565280.5:c.671_677dup | ENSP00000455573.1:p.Pro227ValfsTer4 | |
| ENST00000565466.5:c.671_677dup | ENSP00000454544.1:p.Pro227ValfsTer4 | |
| NM_001146094.1:c.671_677dup | NP_001139566.1:p.Pro227ValfsTer4 | |
| NM_001146095.1:c.671_677dup | NP_001139567.1:p.Pro227ValfsTer4 | |
| NM_001146096.1:c.671_677dup | NP_001139568.1:p.Pro227ValfsTer4 | |
| NM_014967.4:c.671_677dup | NP_055782.3:p.Pro227ValfsTer4 | |
| XM_005254232.3:c.671_677dup | XP_005254289.1:p.Pro227ValfsTer4 | |
| XM_005254234.3:c.671_677dup | XP_005254291.1:p.Pro227ValfsTer4 | |
| XM_005254235.3:c.671_677dup | XP_005254292.1:p.Pro227ValfsTer4 | |
| XM_005254236.2:c.671_677dup | XP_005254293.1:p.Pro227ValfsTer4 | |
| XM_011521370.1:c.52+744_52+750dup | XP_011519672.1:n.52+744_52+750dup | |
| XM_011521371.1:c.-649_-643dup | XP_011519673.1:n.-649_-643dup | |
| XM_011521372.1:c.671_677dup | XP_011519674.1:p.Pro227ValfsTer4 | |
| XM_005254232.4:c.671_677dup | XP_005254289.1:p.Pro227ValfsTer4 | |
| XM_005254234.5:c.671_677dup | XP_005254291.1:p.Pro227ValfsTer4 | |
| XM_011521370.2:c.52+744_52+750dup | XP_011519672.1:n.52+744_52+750dup | |
| XM_011521372.2:c.671_677dup | XP_011519674.1:p.Pro227ValfsTer4 | |
| XM_017022012.2:c.-799_-793dup | XP_016877501.1:n.-799_-793dup | |
| XM_017022013.1:c.-799_-793dup | XP_016877502.1:n.-799_-793dup | |
| XM_024449874.1:c.-649_-643dup | XP_024305642.1:n.-649_-643dup | |
| XR_001751149.1:n.970_976dup | ||
| XR_001751151.1:n.966_972dup | ||
| NM_014967.5:c.671_677dup MANE Select | NP_055782.3:p.Pro227ValfsTer4 | |
| NM_001146094.2:c.671_677dup | NP_001139566.1:p.Pro227ValfsTer4 | |
| NM_001146096.2:c.671_677dup | NP_001139568.1:p.Pro227ValfsTer4 |