Linked Data
ClinVar Variation Id:
165445
ClinVar RCV Id:
RCV000152047
dbSNP Id:
rs727503490
PubMed:
PMID:25800244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254936del , CM000664.2:g.96254936del | GRCh38 |
| NC_000002.11:g.96920674del , CM000664.1:g.96920674del | GRCh37 |
| NC_000002.10:g.96284401del | NCBI36 |
| NG_027695.1:g.16080del , LRG_528:g.16080del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.308del MANE Select | ENSP00000258439.3:p.Gly103AlafsTer21 | |
| ENST00000258439.7:c.308del | ENSP00000258439.2:p.Gly103AlafsTer21 | |
| ENST00000432959.1:c.308del | ENSP00000416660.1:p.Gly103AlafsTer21 | |
| ENST00000435268.1:c.56del | ENSP00000411810.1:p.Gly19AlafsTer21 | |
| NM_001193304.2:c.308del | NP_001180233.1:p.Gly103AlafsTer21 | |
| NM_017849.3:c.308del , LRG_528t1:c.308del | NP_060319.1:p.Gly103AlafsTer21 | |
| XM_017004450.1:c.-611del | XP_016859939.1:n.-611del | |
| XM_017004452.1:c.56del | XP_016859941.1:p.Gly19AlafsTer21 | |
| NM_001193304.3:c.308del | NP_001180233.1:p.Gly103AlafsTer21 | |
| NM_017849.4:c.308del MANE Select | NP_060319.1:p.Gly103AlafsTer21 |