Linked Data
gnomAD v4:
7-19117040-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117041_19117042del , CM000669.2:g.19117041_19117042del | GRCh38 |
| NC_000007.13:g.19156664_19156665del , CM000669.1:g.19156664_19156665del | GRCh37 |
| NC_000007.12:g.19123189_19123190del | NCBI36 |
| NG_008114.1:g.5631_5632del | |
| NG_008114.2:g.5631_5632del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.280_281del MANE Select | ENSP00000242261.5:p.Ser94GlnfsTer? | |
| ENST00000242261.5:c.280_281del | ENSP00000242261.5:p.Ser94GlnfsTer? | |
| ENST00000354571.5:c.77_78del | ||
| NM_000474.3:c.280_281del | NP_000465.1:p.Ser94GlnfsTer? | |
| XM_011515496.1:c.280_281del | XP_011513798.1:p.Ser94GlnfsTer? | |
| NR_149001.1:n.631_632del | ||
| NM_000474.4:c.280_281del MANE Select | NP_000465.1:p.Ser94GlnfsTer? | |
| NR_149001.2:n.595_596del |