Linked Data
ClinVar Variation Id:
6563
dbSNP Id:
rs72664233
ExAC:
16:16251626 CA / C
gnomAD v2:
16-16251626-CA-C
gnomAD v3:
16-16157769-CA-C
gnomAD v4:
16-16157769-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16157770del , CM000678.2:g.16157770del | GRCh38 |
| NC_000016.9:g.16251627del , CM000678.1:g.16251627del | GRCh37 |
| NC_000016.8:g.16159128del | NCBI36 |
| NG_007558.2:g.70702del | |
| NG_007558.3:g.70848del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3775del | ENSP00000483331.2:p.Trp1259GlyfsTer14 | |
| ENST00000205557.12:c.3775del MANE Select | ENSP00000205557.7:p.Trp1259GlyfsTer14 | |
| ENST00000640696.1:c.589del | ENSP00000492197.1:p.Trp197GlyfsTer14 | |
| ENST00000205557.11:c.3775del | ENSP00000205557.7:p.Trp1259GlyfsTer14 | |
| ENST00000456970.6:c.3400del | ENSP00000405002.2:n.3400del | |
| ENST00000622290.4:c.*984del | ENSP00000483331.1:n.*984del | |
| NM_001171.5:c.3775del | NP_001162.4:p.Trp1259GlyfsTer14 | |
| XM_011522479.1:c.3742del | XP_011520781.1:p.Trp1248GlyfsTer14 | |
| XM_011522480.1:c.3433del | XP_011520782.1:p.Trp1145GlyfsTer14 | |
| XM_011522481.1:c.3433del | XP_011520783.1:p.Trp1145GlyfsTer14 | |
| XR_932836.1:n.4010del | ||
| XR_932837.1:n.3811del | ||
| XR_932838.1:n.3811del | ||
| XR_933134.1:n.539-2011del | ||
| NM_001351800.1:c.3433del | NP_001338729.1:p.Trp1145GlyfsTer14 | |
| NR_147784.1:n.3437del | ||
| XM_011522479.2:c.3742del | XP_011520781.1:p.Trp1248GlyfsTer14 | |
| XM_011522481.3:c.3433del | XP_011520783.1:p.Trp1145GlyfsTer14 | |
| XM_017023212.1:c.3607del | XP_016878701.1:p.Trp1203GlyfsTer14 | |
| XM_024450261.1:c.3811del | XP_024306029.1:p.Trp1271GlyfsTer14 | |
| XR_932836.2:n.3956del | ||
| XR_932837.3:n.3756del | ||
| XR_932838.3:n.3756del | ||
| NM_001171.6:c.3775del MANE Select | NP_001162.5:p.Trp1259GlyfsTer14 |