Linked Data
dbSNP Id:
rs1239111149
gnomAD v2:
16-9858670-TCATGTTGGA-T
gnomAD v3:
16-9764813-TCATGTTGGA-T
gnomAD v4:
16-9764813-TCATGTTGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764818_9764826del , CM000678.2:g.9764818_9764826del | GRCh38 |
| NC_000016.9:g.9858675_9858683del , CM000678.1:g.9858675_9858683del | GRCh37 |
| NC_000016.8:g.9766176_9766184del | NCBI36 |
| NG_011812.1:g.422933_422941del | |
| NG_011812.2:g.422933_422941del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.2722_2730del MANE Select | ENSP00000332549.3:p.Ser908_Met910del | |
| ENST00000535259.6:c.2251_2259del | ENSP00000441572.3:p.Ser751_Met753del | |
| ENST00000636273.2:n.2315_2323del | ||
| ENST00000674742.1:c.2251_2259del | ENSP00000502200.1:p.Ser751_Met753del | |
| ENST00000675398.1:c.*92_*100del | ENSP00000502752.1:n.*92_*100del | |
| ENST00000330684.3:c.2722_2730del | ENSP00000332549.3:p.Ser908_Met910del | |
| ENST00000396573.6:c.2722_2730del | ENSP00000379818.2:p.Ser908_Met910del | |
| ENST00000396575.6:c.2311_2319del | ENSP00000379820.3:p.Ser771_Met773del | |
| ENST00000461292.3:n.2361_2369del | ||
| ENST00000535259.5:c.2311_2319del | ENSP00000441572.2:p.Ser771_Met773del | |
| ENST00000562109.5:c.2722_2730del | ENSP00000454998.1:p.Ser908_Met910del | |
| NM_000833.4:c.2722_2730del | NP_000824.1:p.Ser908_Met910del | |
| NM_001134407.2:c.2722_2730del | NP_001127879.1:p.Ser908_Met910del | |
| NM_001134408.2:c.2722_2730del | NP_001127880.1:p.Ser908_Met910del | |
| XM_011522456.1:c.2563_2571del | XP_011520758.1:p.Ser855_Met857del | |
| XM_011522457.1:c.2464_2472del | XP_011520759.1:p.Ser822_Met824del | |
| XM_011522458.1:c.2251_2259del | XP_011520760.1:p.Ser751_Met753del | |
| XM_011522459.1:c.2251_2259del | XP_011520761.1:p.Ser751_Met753del | |
| XM_011522460.1:c.2251_2259del | XP_011520762.1:p.Ser751_Met753del | |
| XM_011522461.1:c.2722_2730del | XP_011520763.1:p.Ser908_Met910del | |
| XM_011522458.3:c.2251_2259del | XP_011520760.1:p.Ser751_Met753del | |
| XM_011522461.3:c.2722_2730del | XP_011520763.1:p.Ser908_Met910del | |
| XM_017023172.1:c.2878_2886del | XP_016878661.1:p.Ser960_Met962del | |
| XM_017023173.1:c.2878_2886del | XP_016878662.1:p.Ser960_Met962del | |
| NM_001134407.3:c.2722_2730del MANE Select | NP_001127879.1:p.Ser908_Met910del | |
| NM_000833.5:c.2722_2730del | NP_000824.1:p.Ser908_Met910del |