Linked Data
dbSNP Id:
rs763539865
ExAC:
19:16008326 GGCCAGGA / G
gnomAD v2:
19-16008326-GGCCAGGA-G
gnomAD v3:
19-15897516-GGCCAGGA-G
gnomAD v4:
19-15897516-GGCCAGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897525_15897531del , CM000681.2:g.15897525_15897531del | GRCh38 |
| NC_000019.9:g.16008335_16008341del , CM000681.1:g.16008335_16008341del | GRCh37 |
| NC_000019.8:g.15869335_15869341del | NCBI36 |
| NG_007971.2:g.5552_5558del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.89_95del MANE Select | ENSP00000221700.3:p.Leu30ProfsTer? | |
| ENST00000011989.11:c.89_95del | ENSP00000011989.8:p.Leu30ProfsTer? | |
| ENST00000221700.10:c.89_95del | ENSP00000221700.3:p.Leu30ProfsTer? | |
| ENST00000392846.7:n.49+503_49+509del | ||
| ENST00000586927.2:c.89_95del | ENSP00000465514.1:p.Leu30ProfsTer? | |
| ENST00000587671.2:c.89_95del | ENSP00000467443.2:p.Leu30ProfsTer? | |
| ENST00000608168.1:n.142_148del | ||
| NM_001082.4:c.89_95del | NP_001073.3:p.Leu30ProfsTer? | |
| NM_001082.5:c.89_95del MANE Select | NP_001073.3:p.Leu30ProfsTer? |