Linked Data
ClinVar Variation Id:
3032554
ClinVar RCV Id:
RCV003902242
dbSNP Id:
rs773124119
ExAC:
2:20205845 CA / C
gnomAD v2:
2-20205845-CA-C
gnomAD v3:
2-20006084-CA-C
gnomAD v4:
2-20006084-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20006085del , CM000664.2:g.20006085del | GRCh38 |
| NC_000002.11:g.20205846del , CM000664.1:g.20205846del | GRCh37 |
| NC_000002.10:g.20069327del | NCBI36 |
| NG_008087.1:g.11610del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.449del MANE Select | ENSP00000383894.3:p.Val150GlyfsTer15 | |
| ENST00000407540.7:c.449del | ENSP00000383894.3:p.Val150GlyfsTer15 | |
| ENST00000421259.2:c.449del | ENSP00000398753.2:p.Val150GlyfsTer15 | |
| NM_002381.4:c.449del | NP_002372.1:p.Val150GlyfsTer15 | |
| NM_002381.5:c.449del MANE Select | NP_002372.1:p.Val150GlyfsTer15 |