Linked Data
ClinVar Variation Id:
188907
ClinVar RCV Id:
RCV000169267
dbSNP Id:
rs786204551
gnomAD v3:
15-80186138-CA-C
gnomAD v4:
15-80186138-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80186139del , CM000677.2:g.80186139del | GRCh38 |
| NC_000015.9:g.80478481del , CM000677.1:g.80478481del | GRCh37 |
| NC_000015.8:g.78265536del | NCBI36 |
| NG_012833.1:g.38141del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682012.1:n.1279del | ||
| ENST00000561421.6:c.1190del MANE Select | ENSP00000453347.2:p.Gln397ArgfsTer? | |
| ENST00000646551.1:n.2804del | ||
| ENST00000261755.9:c.1190del | ENSP00000261755.5:p.Gln397ArgfsTer? | |
| ENST00000407106.5:c.1190del | ENSP00000385080.1:p.Gln397ArgfsTer? | |
| ENST00000539156.5:c.980del | ENSP00000454271.1:p.Gln327ArgfsTer? | |
| ENST00000559217.1:n.407del | ||
| ENST00000561421.5:c.1190del | ENSP00000453347.1:p.Gln397ArgfsTer? | |
| NM_000137.2:c.1190del | NP_000128.1:p.Gln397ArgfsTer? | |
| XM_024449872.1:c.1190del | XP_024305640.1:p.Gln397ArgfsTer? | |
| NM_000137.4:c.1190del MANE Select | NP_000128.1:p.Gln397ArgfsTer? | |
| NM_001374377.1:c.1190del | NP_001361306.1:p.Gln397ArgfsTer? | |
| NM_001374380.1:c.1190del | NP_001361309.1:p.Gln397ArgfsTer? |