Linked Data
dbSNP Id:
rs1555271831
gnomAD v2:
12-102179848-TGCAA-T
gnomAD v3:
12-101786070-TGCAA-T
gnomAD v4:
12-101786070-TGCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101786071_101786074del , CM000674.2:g.101786071_101786074del | GRCh38 |
| NC_000012.11:g.102179849_102179852del , CM000674.1:g.102179849_102179852del | GRCh37 |
| NC_000012.10:g.100703980_100703983del | NCBI36 |
| NG_021243.1:g.49794_49797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.509_512del MANE Select | ENSP00000299314.7:p.Val170GlufsTer? | |
| ENST00000299314.11:c.509_512del | ENSP00000299314.7:p.Val170GlufsTer? | |
| ENST00000549940.5:c.509_512del | ENSP00000449150.1:p.Val170GlufsTer? | |
| ENST00000550352.1:n.303_306del | ||
| ENST00000552681.1:c.143_146del | ENSP00000449217.1:p.Val48GlufsTer? | |
| NM_024312.4:c.509_512del | NP_077288.2:p.Val170GlufsTer? | |
| XM_006719593.2:c.509_512del | XP_006719656.1:p.Val170GlufsTer? | |
| XM_011538731.1:c.428_431del | XP_011537033.1:p.Val143GlufsTer? | |
| XM_006719593.3:c.509_512del | XP_006719656.1:p.Val170GlufsTer? | |
| XM_011538731.2:c.428_431del | XP_011537033.1:p.Val143GlufsTer? | |
| XM_017019961.1:c.293_296del | XP_016875450.1:p.Val98GlufsTer? | |
| XM_017019962.2:c.-842_-839del | XP_016875451.1:n.-842_-839del | |
| NM_024312.5:c.509_512del MANE Select | NP_077288.2:p.Val170GlufsTer? |