Linked Data
dbSNP Id:
rs1682615451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570056_149570057del , CM000664.2:g.149570056_149570057del | GRCh38 |
| NC_000002.11:g.150426570_150426571del , CM000664.1:g.150426570_150426571del | GRCh37 |
| NC_000002.10:g.150134816_150134817del | NCBI36 |
| NG_009189.1:g.22760_22761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.808_809del MANE Select | ENSP00000301920.5:p.Trp270GlyfsTer12 | |
| ENST00000303319.9:c.808_809del | ENSP00000301920.5:p.Trp270GlyfsTer12 | |
| ENST00000422782.2:c.910_911del | ENSP00000408331.2:p.Trp304GlyfsTer12 | |
| ENST00000428879.5:c.808_809del | ENSP00000389060.1:p.Trp270GlyfsTer12 | |
| NM_015702.2:c.808_809del | NP_056517.1:p.Trp270GlyfsTer12 | |
| NM_015702.3:c.808_809del MANE Select | NP_056517.1:p.Trp270GlyfsTer12 |