Linked Data
dbSNP Id:
rs1558302678
gnomAD v4:
1-202128434-GC-G
MyVariant Identifiers:
chr1:g.202097563del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202128435del , CM000663.2:g.202128435del | GRCh38 |
| NC_000001.10:g.202097563del , CM000663.1:g.202097563del | GRCh37 |
| NC_000001.9:g.200364186del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682422.1:n.906del | ||
| ENST00000682545.1:c.*331del | ENSP00000508402.1:n.*331del | |
| ENST00000682887.1:c.1726del | ENSP00000506946.1:n.1726del | |
| ENST00000683302.1:c.1256del | ENSP00000507885.1:p.Ala419ValfsTer? | |
| ENST00000683557.1:c.*157del | ENSP00000508029.1:n.*157del | |
| ENST00000367282.6:c.1325del MANE Select | ENSP00000356251.4:p.Ala442ValfsTer? | |
| ENST00000367282.5:c.1325del | ENSP00000356251.4:p.Ala442ValfsTer? | |
| NM_004767.3:c.1325del | NP_004758.3:p.Ala442ValfsTer? | |
| XM_011510158.1:c.764del | XP_011508460.1:p.Ala255ValfsTer? | |
| NM_004767.4:c.1325del | NP_004758.3:p.Ala442ValfsTer? | |
| XM_011510158.2:c.764del | XP_011508460.1:p.Ala255ValfsTer? | |
| NM_004767.5:c.1325del MANE Select | NP_004758.3:p.Ala442ValfsTer? |