Linked Data
dbSNP Id:
rs750707060
ExAC:
10:30602591 TTC / T
gnomAD v2:
10-30602591-TTC-T
gnomAD v3:
10-30313662-TTC-T
gnomAD v4:
10-30313662-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313664_30313665del , CM000672.2:g.30313664_30313665del | GRCh38 |
| NC_000010.10:g.30602593_30602594del , CM000672.1:g.30602593_30602594del | GRCh37 |
| NC_000010.9:g.30642599_30642600del | NCBI36 |
| NG_028096.1:g.40675_40676del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1694_1695del MANE Select | ENSP00000263063.3:p.Arg565AsnfsTer14 | |
| ENST00000263063.8:c.1694_1695del | ENSP00000263063.3:p.Arg565AsnfsTer14 | |
| ENST00000488290.5:n.3449_3450del | ||
| NM_018109.3:c.1694_1695del | NP_060579.3:p.Arg565AsnfsTer14 | |
| NM_018109.4:c.1694_1695del MANE Select | NP_060579.3:p.Arg565AsnfsTer14 |