Linked Data
dbSNP Id:
rs1670621875
gnomAD v3:
2-72891497-AGTTCAAGTCT-A
gnomAD v4:
2-72891497-AGTTCAAGTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891499_72891508del , CM000664.2:g.72891499_72891508del | GRCh38 |
| NC_000002.11:g.73118628_73118637del , CM000664.1:g.73118628_73118637del | GRCh37 |
| NC_000002.10:g.72972136_72972145del | NCBI36 |
| NG_008234.1:g.9117_9126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.748_757del MANE Select | ENSP00000234454.5:p.Phe250GlufsTer17 | |
| ENST00000234454.5:c.748_757del | ENSP00000234454.5:p.Phe250GlufsTer17 | |
| ENST00000498749.1:n.693_702del | ||
| NM_003124.4:c.748_757del | NP_003115.1:p.Phe250GlufsTer17 | |
| NM_003124.5:c.748_757del MANE Select | NP_003115.1:p.Phe250GlufsTer17 |