Linked Data
ClinVar Variation Id:
10326
ClinVar RCV Id:
RCV000011039
dbSNP Id:
rs387906464
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154861744del , CM000685.2:g.154861744del | GRCh38 |
| NC_000023.10:g.154090019del , CM000685.1:g.154090019del | GRCh37 |
| NC_000023.9:g.153743213del | NCBI36 |
| NG_011403.1:g.165982del | |
| NG_011403.2:g.165982del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6699del MANE Select | ENSP00000353393.4:p.Arg2234GlyfsTer9 | |
| ENST00000644698.1:c.432del | ENSP00000495706.1:p.Arg145GlyfsTer9 | |
| ENST00000330287.10:c.294del | ENSP00000327895.6:p.Arg99GlyfsTer9 | |
| ENST00000360256.8:c.6699del | ENSP00000353393.4:p.Arg2234GlyfsTer9 | |
| NM_000132.3:c.6699del | NP_000123.1:p.Arg2234GlyfsTer9 | |
| NM_019863.2:c.294del | NP_063916.1:p.Arg99GlyfsTer9 | |
| XM_011531126.1:c.6594del | XP_011529428.1:p.Arg2199GlyfsTer9 | |
| NM_000132.4:c.6699del MANE Select | NP_000123.1:p.Arg2234GlyfsTer9 | |
| NM_019863.3:c.294del | NP_063916.1:p.Arg99GlyfsTer9 |