Linked Data
gnomAD v4:
8-86671065-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671066dup , CM000670.2:g.86671066dup | GRCh38 |
| NC_000008.10:g.87683294dup , CM000670.1:g.87683294dup | GRCh37 |
| NC_000008.9:g.87752410dup | NCBI36 |
| NG_016980.1:g.77610dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.371dup MANE Select | ENSP00000316605.5:p.Asn125LysfsTer2 | |
| ENST00000680314.1:n.132dup | ||
| ENST00000681746.1:c.371dup | ENSP00000505959.1:p.Asn125LysfsTer2 | |
| ENST00000320005.5:c.371dup | ENSP00000316605.5:p.Asn125LysfsTer2 | |
| NM_019098.4:c.371dup | NP_061971.3:p.Asn125LysfsTer2 | |
| XM_011517138.1:c.-44dup | XP_011515440.1:n.-44dup | |
| XM_011517138.2:c.-44dup | XP_011515440.1:n.-44dup | |
| NM_019098.5:c.371dup MANE Select | NP_061971.3:p.Asn125LysfsTer2 |