Linked Data
dbSNP Id:
rs778560974
ExAC:
15:48737676 AT / A
gnomAD v2:
15-48737676-AT-A
gnomAD v4:
15-48445479-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445482del , CM000677.2:g.48445482del | GRCh38 |
| NC_000015.9:g.48737679del , CM000677.1:g.48737679del | GRCh37 |
| NC_000015.8:g.46524971del | NCBI36 |
| NG_008805.2:g.205309del , LRG_778:g.205309del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5813del | ENSP00000453958.2:p.Asn1938MetfsTer? | |
| ENST00000674301.2:c.5813del | ENSP00000501333.2:p.Asn1938MetfsTer? | |
| ENST00000684448.1:n.4487del | ||
| ENST00000316623.10:c.5813del MANE Select | ENSP00000325527.5:p.Asn1938MetfsTer? | |
| ENST00000674301.1:c.812del | ENSP00000501333.1:p.Asn271MetfsTer? | |
| ENST00000316623.9:c.5813del | ENSP00000325527.5:p.Asn1938MetfsTer? | |
| ENST00000537463.6:c.*1576del | ENSP00000440294.2:n.*1576del | |
| ENST00000559133.5:c.1120del | ||
| NM_000138.4:c.5813del , LRG_778t1:c.5813del | NP_000129.3:p.Asn1938MetfsTer? | |
| NM_000138.5:c.5813del MANE Select | NP_000129.3:p.Asn1938MetfsTer? |