Linked Data
ClinVar Variation Id:
66025
ClinVar RCV Id:
RCV000056268
dbSNP Id:
rs587777045
ExAC:
3:50380553 CCA / C
gnomAD v2:
3-50380553-CCA-C
gnomAD v3:
3-50343122-CCA-C
gnomAD v4:
3-50343122-CCA-C
PubMed:
PMID:23891471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50343127_50343128del , CM000665.2:g.50343127_50343128del | GRCh38 |
| NC_000003.11:g.50380558_50380559del , CM000665.1:g.50380558_50380559del | GRCh37 |
| NC_000003.10:g.50355562_50355563del | NCBI36 |
| NG_023270.1:g.2813_2814del | |
| NG_042828.1:g.7623_7624del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231749.8:c.593_594del MANE Select | ENSP00000231749.3:p.Val198GlyfsTer13 | |
| ENST00000231749.7:c.593_594del | ENSP00000231749.3:p.Val198GlyfsTer13 | |
| ENST00000360165.7:c.593_594del | ENSP00000353289.3:p.Val198GlyfsTer? | |
| ENST00000442887.1:c.464_465del | ENSP00000393687.1:p.Val155GlyfsTer13 | |
| ENST00000443080.5:c.*345_*346del | ENSP00000415661.1:n.*345_*346del | |
| ENST00000475688.1:n.45_46del | ||
| NM_001308379.1:c.593_594del | NP_001295308.1:p.Val198GlyfsTer? | |
| NM_015896.2:c.593_594del | NP_056980.2:p.Val198GlyfsTer13 | |
| NM_015896.3:c.593_594del | NP_056980.2:p.Val198GlyfsTer13 | |
| XM_005265216.2:c.356_357del | XP_005265273.1:p.Val119GlyfsTer13 | |
| XM_005265216.3:c.356_357del | XP_005265273.1:p.Val119GlyfsTer13 | |
| NM_015896.4:c.593_594del MANE Select | NP_056980.2:p.Val198GlyfsTer13 | |
| NM_001308379.2:c.593_594del | NP_001295308.1:p.Val198GlyfsTer? |