Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117041_19117072del , CM000669.2:g.19117041_19117072del | GRCh38 |
| NC_000007.13:g.19156664_19156695del , CM000669.1:g.19156664_19156695del | GRCh37 |
| NC_000007.12:g.19123189_19123220del | NCBI36 |
| NG_008114.1:g.5601_5632del | |
| NG_008114.2:g.5601_5632del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.250_281del MANE Select | ENSP00000242261.5:p.Gly84GlnfsTer? | |
| ENST00000242261.5:c.250_281del | ENSP00000242261.5:p.Gly84GlnfsTer? | |
| ENST00000354571.5:c.47_78del | ||
| NM_000474.3:c.250_281del | NP_000465.1:p.Gly84GlnfsTer? | |
| XM_011515496.1:c.250_281del | XP_011513798.1:p.Gly84GlnfsTer? | |
| NR_149001.1:n.601_632del | ||
| NM_000474.4:c.250_281del MANE Select | NP_000465.1:p.Gly84GlnfsTer? | |
| NR_149001.2:n.565_596del |