Linked Data
dbSNP Id:
rs1376872938
gnomAD v3:
19-6710043-G-GGGAGAGACAGGGAGAGAGAC
gnomAD v4:
19-6710043-G-GGGAGAGACAGGGAGAGAGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710062_6710081dup , CM000681.2:g.6710062_6710081dup | GRCh38 |
| NC_000019.9:g.6710073_6710092dup , CM000681.1:g.6710073_6710092dup | GRCh37 |
| NC_000019.8:g.6661073_6661092dup | NCBI36 |
| NG_009557.1:g.15589_15608dup , LRG_27:g.15589_15608dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-221_1564-202dup | ENSP00000512083.1:n.1564-221_1564-202dup | |
| ENST00000695654.1:c.811-221_811-202dup | ENSP00000512085.1:n.811-221_811-202dup | |
| ENST00000695655.1:c.592-185_592-166dup | ENSP00000512086.1:n.592-185_592-166dup | |
| ENST00000695692.1:n.1051-221_1051-202dup | ||
| ENST00000245907.11:c.1687-221_1687-202dup MANE Select | ENSP00000245907.4:n.1687-221_1687-202dup | |
| ENST00000245907.10:c.1687-221_1687-202dup | ENSP00000245907.4:n.1687-221_1687-202dup | |
| ENST00000600763.1:n.320-221_320-202dup | ||
| NM_000064.3:c.1687-221_1687-202dup | NP_000055.2:n.1687-221_1687-202dup | |
| NM_000064.4:c.1687-221_1687-202dup MANE Select | NP_000055.2:n.1687-221_1687-202dup |