Linked Data
dbSNP Id:
rs762763030
ExAC:
5:10286486 CTGA / C
gnomAD v2:
5-10286486-CTGA-C
gnomAD v4:
5-10286374-CTGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286375_10286377del , CM000667.2:g.10286375_10286377del | GRCh38 |
| NC_000005.9:g.10286487_10286489del , CM000667.1:g.10286487_10286489del | GRCh37 |
| NC_000005.8:g.10339487_10339489del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.443_445del MANE Select | ENSP00000296658.3:p.Phe148_Arg149delinsTrp | |
| ENST00000296658.3:c.443_445del | ENSP00000296658.3:p.Phe148_Arg149delinsTrp | |
| ENST00000506821.1:n.697_699del | ||
| ENST00000510532.5:n.511_513del | ||
| ENST00000511963.5:n.551_553del | ||
| NM_138809.3:c.443_445del | NP_620164.1:p.Phe148_Arg149delinsTrp | |
| NM_138809.4:c.443_445del MANE Select | NP_620164.1:p.Phe148_Arg149delinsTrp |