Linked Data
dbSNP Id:
rs1967871174
gnomAD v3:
19-6710025-GCGGGAGAGAGAGAGAAAGGGAGAGAC-G
gnomAD v4:
19-6710025-GCGGGAGAGAGAGAGAAAGGGAGAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710026_6710051del , CM000681.2:g.6710026_6710051del | GRCh38 |
| NC_000019.9:g.6710037_6710062del , CM000681.1:g.6710037_6710062del | GRCh37 |
| NC_000019.8:g.6661037_6661062del | NCBI36 |
| NG_009557.1:g.15601_15626del , LRG_27:g.15601_15626del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-209_1564-184del | ENSP00000512083.1:n.1564-209_1564-184del | |
| ENST00000695654.1:c.811-209_811-184del | ENSP00000512085.1:n.811-209_811-184del | |
| ENST00000695655.1:c.592-173_592-148del | ENSP00000512086.1:n.592-173_592-148del | |
| ENST00000695692.1:n.1051-209_1051-184del | ||
| ENST00000245907.11:c.1687-209_1687-184del MANE Select | ENSP00000245907.4:n.1687-209_1687-184del | |
| ENST00000245907.10:c.1687-209_1687-184del | ENSP00000245907.4:n.1687-209_1687-184del | |
| ENST00000600763.1:n.320-209_320-184del | ||
| NM_000064.3:c.1687-209_1687-184del | NP_000055.2:n.1687-209_1687-184del | |
| NM_000064.4:c.1687-209_1687-184del MANE Select | NP_000055.2:n.1687-209_1687-184del |