Linked Data
dbSNP Id:
rs1422973940
gnomAD v2:
15-89424685-CT-C
gnomAD v3:
15-88881454-CT-C
gnomAD v4:
15-88881454-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881455del , CM000677.2:g.88881455del | GRCh38 |
| NC_000015.9:g.89424686del , CM000677.1:g.89424686del | GRCh37 |
| NC_000015.8:g.87225690del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.395del MANE Select | ENSP00000352606.4:p.Glu132GlyfsTer? | |
| ENST00000359595.7:c.395del | ENSP00000352606.3:p.Glu132GlyfsTer? | |
| ENST00000558770.5:c.395del | ENSP00000456458.1:p.Glu132GlyfsTer? | |
| ENST00000562281.1:c.395del | ENSP00000456985.1:p.Glu132GlyfsTer? | |
| ENST00000562889.5:c.581del | ENSP00000457180.1:p.Glu194GlyfsTer? | |
| ENST00000563808.1:n.497del | ||
| NM_001307952.1:c.581del | NP_001294881.1:p.Glu194GlyfsTer? | |
| NM_178232.2:c.395del | NP_839946.1:p.Glu132GlyfsTer? | |
| NM_178232.3:c.395del | NP_839946.1:p.Glu132GlyfsTer? | |
| XM_011521261.1:c.527del | XP_011519563.1:p.Glu176GlyfsTer? | |
| XR_243204.1:n.610del | ||
| XR_931756.1:n.716del | ||
| XM_017021934.2:c.581del | XP_016877423.1:p.Glu194GlyfsTer? | |
| XM_017021935.2:c.16del | XP_016877424.1:p.Arg6AspfsTer15 | |
| XM_017021936.2:c.16del | XP_016877425.1:p.Arg6AspfsTer15 | |
| XR_001751098.2:n.728del | ||
| XR_931756.3:n.729del | ||
| NM_001307952.2:c.581del | NP_001294881.1:p.Glu194GlyfsTer? | |
| NM_178232.4:c.395del MANE Select | NP_839946.1:p.Glu132GlyfsTer? |