Linked Data
gnomAD v4:
4-87612571-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612575dup , CM000666.2:g.87612575dup | GRCh38 |
| NC_000004.11:g.88533727dup , CM000666.1:g.88533727dup | GRCh37 |
| NC_000004.10:g.88752751dup | NCBI36 |
| NG_011595.1:g.9047dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.389dup MANE Select | ENSP00000498766.1:p.Asn130LysfsTer15 | |
| ENST00000282478.7:c.389dup | ENSP00000282478.7:p.Asn130LysfsTer15 | |
| ENST00000399271.5:c.389dup | ENSP00000382213.1:p.Asn130LysfsTer15 | |
| NM_014208.3:c.389dup MANE Select | NP_055023.2:p.Asn130LysfsTer15 |