Linked Data
dbSNP Id:
rs1564448404
gnomAD v2:
9-130575622-T-TCTGG
gnomAD v3:
9-127813343-T-TCTGG
gnomAD v4:
9-127813343-T-TCTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127813345_127813348dup , CM000671.2:g.127813345_127813348dup | GRCh38 |
| NC_000009.11:g.130575624_130575627dup , CM000671.1:g.130575624_130575627dup | GRCh37 |
| NC_000009.10:g.129615445_129615448dup | NCBI36 |
| NG_009551.1:g.46422_46425dup , LRG_589:g.46422_46425dup | |
| NG_023245.1:g.15471_15474dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373247.7:c.1505_1508dup MANE Select | ENSP00000362344.2:p.Pro504GlyfsTer? | |
| ENST00000373225.7:c.1355_1358dup | ENSP00000362322.3:p.Pro454GlyfsTer? | |
| ENST00000373228.5:c.*162_*165dup | ENSP00000362325.1:n.*162_*165dup | |
| ENST00000373247.6:c.1505_1508dup | ENSP00000362344.2:p.Pro504GlyfsTer? | |
| ENST00000393706.6:c.1427_1430dup | ENSP00000377309.2:p.Pro478GlyfsTer? | |
| ENST00000460181.5:n.1493_1496dup | ||
| ENST00000467826.5:n.709+22_709+25dup | ||
| ENST00000475270.1:n.331_334dup | ||
| ENST00000630236.2:c.*229_*232dup | ENSP00000486766.1:n.*229_*232dup | |
| NM_001018078.2:c.1355_1358dup | NP_001018088.1:p.Pro454GlyfsTer? | |
| NM_001288803.1:c.1427_1430dup | NP_001275732.1:p.Pro478GlyfsTer? | |
| NM_004957.5:c.1505_1508dup | NP_004948.4:p.Pro504GlyfsTer? | |
| NR_110170.1:n.1553_1556dup | ||
| XM_005251864.2:c.1483+22_1483+25dup | XP_005251921.1:n.1483+22_1483+25dup | |
| XM_011518437.1:c.1355_1358dup | XP_011516739.1:p.Pro454GlyfsTer? | |
| XM_011518438.1:c.1355_1358dup | XP_011516740.1:p.Pro454GlyfsTer? | |
| XM_011518439.1:c.662_665dup | XP_011516741.1:p.Pro223GlyfsTer? | |
| XR_242581.2:n.1402_1405dup | ||
| XR_242582.2:n.1380+22_1380+25dup | ||
| XM_005251864.4:c.1483+22_1483+25dup | XP_005251921.1:n.1483+22_1483+25dup | |
| XM_011518439.2:c.662_665dup | XP_011516741.1:p.Pro223GlyfsTer? | |
| XM_017014565.2:c.1333+22_1333+25dup | XP_016870054.1:n.1333+22_1333+25dup | |
| XM_017014566.1:c.662_665dup | XP_016870055.1:p.Pro223GlyfsTer? | |
| XR_242581.4:n.1400_1403dup | ||
| XR_242582.4:n.1378+22_1378+25dup | ||
| NM_004957.6:c.1505_1508dup MANE Select | NP_004948.4:p.Pro504GlyfsTer? |