Linked Data
dbSNP Id:
rs2092906884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536592dup , CM000679.2:g.42536592dup | GRCh38 |
| NC_000017.10:g.40688610dup , CM000679.1:g.40688610dup | GRCh37 |
| NC_000017.9:g.37942136dup | NCBI36 |
| NG_011552.1:g.5660dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.320dup MANE Select | ENSP00000225927.1:p.Leu108AlafsTer? | |
| ENST00000225927.6:c.320dup | ENSP00000225927.1:p.Leu108AlafsTer? | |
| ENST00000586516.5:c.70dup | ||
| ENST00000591587.1:c.63dup | ENSP00000467836.1:p.Ala22SerfsTer15 | |
| NM_000263.3:c.320dup | NP_000254.2:p.Leu108AlafsTer? | |
| XM_006721920.2:c.-423dup | XP_006721983.1:n.-423dup | |
| XM_011524840.1:c.-423dup | XP_011523142.1:n.-423dup | |
| XM_024450771.1:c.320dup | XP_024306539.1:p.Leu108AlafsTer28 | |
| NM_000263.4:c.320dup MANE Select | NP_000254.2:p.Leu108AlafsTer? |