Linked Data
dbSNP Id:
rs1254657157
gnomAD v2:
19-6710005-G-GGAGAGAGGGAGGGA
gnomAD v3:
19-6709994-G-GGAGAGAGGGAGGGA
gnomAD v4:
19-6709994-G-GGAGAGAGGGAGGGA
MyVariant Identifiers:
chr19:g.6710005_6710006insGAGAGAGGGAGGGA (hg19)
chr19:g.6709994_6709995insGAGAGAGGGAGGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710006_6710019dup , CM000681.2:g.6710006_6710019dup | GRCh38 |
| NC_000019.9:g.6710017_6710030dup , CM000681.1:g.6710017_6710030dup | GRCh37 |
| NC_000019.8:g.6661017_6661030dup | NCBI36 |
| NG_009557.1:g.15644_15657dup , LRG_27:g.15644_15657dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-166_1564-153dup | ENSP00000512083.1:n.1564-166_1564-153dup | |
| ENST00000695654.1:c.811-166_811-153dup | ENSP00000512085.1:n.811-166_811-153dup | |
| ENST00000695655.1:c.592-130_592-117dup | ENSP00000512086.1:n.592-130_592-117dup | |
| ENST00000695692.1:n.1051-166_1051-153dup | ||
| ENST00000245907.11:c.1687-166_1687-153dup MANE Select | ENSP00000245907.4:n.1687-166_1687-153dup | |
| ENST00000245907.10:c.1687-166_1687-153dup | ENSP00000245907.4:n.1687-166_1687-153dup | |
| ENST00000600763.1:n.320-166_320-153dup | ||
| NM_000064.3:c.1687-166_1687-153dup | NP_000055.2:n.1687-166_1687-153dup | |
| NM_000064.4:c.1687-166_1687-153dup MANE Select | NP_000055.2:n.1687-166_1687-153dup |