Linked Data
gnomAD v3:
19-6710046-AGAGACAGGGAGAGAGACGGAGAGACAGG-A
gnomAD v4:
19-6710046-AGAGACAGGGAGAGAGACGGAGAGACAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710051_6710078del , CM000681.2:g.6710051_6710078del | GRCh38 |
| NC_000019.9:g.6710062_6710089del , CM000681.1:g.6710062_6710089del | GRCh37 |
| NC_000019.8:g.6661062_6661089del | NCBI36 |
| NG_009557.1:g.15578_15605del , LRG_27:g.15578_15605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-232_1564-205del | ENSP00000512083.1:n.1564-232_1564-205del | |
| ENST00000695654.1:c.811-232_811-205del | ENSP00000512085.1:n.811-232_811-205del | |
| ENST00000695655.1:c.592-196_592-169del | ENSP00000512086.1:n.592-196_592-169del | |
| ENST00000695692.1:n.1051-232_1051-205del | ||
| ENST00000245907.11:c.1687-232_1687-205del MANE Select | ENSP00000245907.4:n.1687-232_1687-205del | |
| ENST00000245907.10:c.1687-232_1687-205del | ENSP00000245907.4:n.1687-232_1687-205del | |
| ENST00000600763.1:n.320-232_320-205del | ||
| NM_000064.3:c.1687-232_1687-205del | NP_000055.2:n.1687-232_1687-205del | |
| NM_000064.4:c.1687-232_1687-205del MANE Select | NP_000055.2:n.1687-232_1687-205del |