Linked Data
ClinVar Variation Id:
9963
ClinVar RCV Id:
RCV001799600
dbSNP Id:
rs587776727
PubMed:
PMID:8167330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.15331500del , CM000685.2:g.15331500del | GRCh38 |
| NC_000023.10:g.15349622del , CM000685.1:g.15349622del | GRCh37 |
| NC_000023.9:g.15259543del | NCBI36 |
| NG_009786.1:g.9039del , LRG_160:g.9039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333590.6:c.431del MANE Select | ENSP00000369820.3:p.Thr144LysfsTer28 | |
| ENST00000637296.1:c.-314-201del | ENSP00000490545.1:n.-314-201del | |
| ENST00000637626.1:c.431del | ENSP00000489928.1:p.Thr144LysfsTer28 | |
| ENST00000638131.1:c.111+320del | ENSP00000490483.1:n.111+320del | |
| ENST00000333590.5:c.431del | ENSP00000369820.3:p.Thr144LysfsTer28 | |
| ENST00000474662.2:n.142+374del | ||
| ENST00000482148.6:c.341+90del | ENSP00000489528.1:n.341+90del | |
| ENST00000542278.6:c.431del | ENSP00000442653.2:p.Thr144LysfsTer28 | |
| ENST00000634286.1:c.134+90del | ENSP00000489491.1:n.134+90del | |
| ENST00000634582.1:c.13+4001del | ENSP00000489540.1:n.13+4001del | |
| ENST00000634640.1:c.-231+374del | ENSP00000489083.1:n.-231+374del | |
| ENST00000635045.1:n.516del | ||
| ENST00000635543.1:c.431del | ENSP00000489205.1:p.Thr144LysfsTer? | |
| ENST00000635598.1:c.341+90del | ENSP00000489207.1:n.341+90del | |
| NM_002641.3:c.431del , LRG_160t1:c.431del | NP_002632.1:p.Thr144LysfsTer28 | |
| NM_020473.3:c.13+4001del | NP_065206.3:n.13+4001del | |
| NR_033835.1:n.457+90del | ||
| NR_033836.1:n.173+374del | ||
| NM_002641.4:c.431del MANE Select | NP_002632.1:p.Thr144LysfsTer28 |