Linked Data
dbSNP Id:
rs769063720
ExAC:
3:8787520 CA / C
gnomAD v2:
3-8787520-CA-C
gnomAD v4:
3-8745834-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745835del , CM000665.2:g.8745835del | GRCh38 |
| NC_000003.11:g.8787521del , CM000665.1:g.8787521del | GRCh37 |
| NC_000003.10:g.8762521del | NCBI36 |
| NG_008797.2:g.17026del , LRG_329:g.17026del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343849.3:c.424del MANE Select | ENSP00000341940.2:p.Ser142AlafsTer? | |
| ENST00000343849.2:c.424del | ENSP00000341940.2:p.Ser142AlafsTer? | |
| ENST00000397368.2:c.424del | ENSP00000380525.2:p.Ser142AlafsTer? | |
| ENST00000472766.1:n.155+11845del | ||
| NM_001234.4:c.424del | NP_001225.1:p.Ser142AlafsTer? | |
| NM_033337.2:c.424del , LRG_329t1:c.424del | NP_203123.1:p.Ser142AlafsTer? | |
| NM_001234.5:c.424del | NP_001225.1:p.Ser142AlafsTer? | |
| NM_033337.3:c.424del MANE Select | NP_203123.1:p.Ser142AlafsTer? |