Linked Data
dbSNP Id:
rs768581623
ExAC:
16:51175657 CTG / C
gnomAD v2:
16-51175657-CTG-C
gnomAD v3:
16-51141746-CTG-C
gnomAD v4:
16-51141746-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51141747_51141748del , CM000678.2:g.51141747_51141748del | GRCh38 |
| NC_000016.9:g.51175658_51175659del , CM000678.1:g.51175658_51175659del | GRCh37 |
| NC_000016.8:g.49733159_49733160del | NCBI36 |
| NG_007990.1:g.14525_14526del , LRG_674:g.14525_14526del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440970.6:c.474_475del | ENSP00000407914.2:p.Ser158ArgfsTer? | |
| ENST00000570206.2:c.183_184del | ENSP00000456777.2:p.Ser61ArgfsTer? | |
| ENST00000685868.1:c.474_475del | ENSP00000509873.1:p.Ser158ArgfsTer? | |
| ENST00000690502.1:c.474_475del | ENSP00000510560.1:p.Ser158ArgfsTer? | |
| ENST00000251020.9:c.474_475del MANE Select | ENSP00000251020.4:p.Ser158ArgfsTer? | |
| ENST00000251020.8:c.474_475del | ENSP00000251020.4:p.Ser158ArgfsTer? | |
| ENST00000440970.5:c.183_184del | ENSP00000407914.1:p.Ser61ArgfsTer? | |
| ENST00000566102.1:c.77-4196_77-4195del | ENSP00000455582.1:n.77-4196_77-4195del | |
| ENST00000570206.1:c.183_184del | ENSP00000456777.1:p.Ser61ArgfsTer? | |
| NM_001127892.1:c.183_184del | NP_001121364.1:p.Ser61ArgfsTer? | |
| NM_002968.2:c.474_475del , LRG_674t1:c.474_475del | NP_002959.2:p.Ser158ArgfsTer? | |
| XM_006721241.2:c.474_475del | XP_006721304.1:p.Ser158ArgfsTer? | |
| XM_011523254.1:c.474_475del | XP_011521556.1:p.Ser158ArgfsTer? | |
| XM_011523255.1:c.474_475del | XP_011521557.1:p.Ser158ArgfsTer? | |
| NM_002968.3:c.474_475del MANE Select | NP_002959.2:p.Ser158ArgfsTer? | |
| NM_001127892.2:c.183_184del | NP_001121364.1:p.Ser61ArgfsTer? |