Linked Data
dbSNP Id:
rs1490739100
gnomAD v2:
19-6709986-G-GAGAGAA
gnomAD v3:
19-6709975-G-GAGAGAA
gnomAD v4:
19-6709975-G-GAGAGAA
MyVariant Identifiers:
chr19:g.6709986_6709987insAGAGAA (hg19)
chr19:g.6709975_6709976insAGAGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6709977_6709978insAGAAAG , CM000681.2:g.6709977_6709978insAGAAAG | GRCh38 |
| NC_000019.9:g.6709988_6709989insAGAAAG , CM000681.1:g.6709988_6709989insAGAAAG | GRCh37 |
| NC_000019.8:g.6660988_6660989insAGAAAG | NCBI36 |
| NG_009557.1:g.15676_15677insTTCTCT , LRG_27:g.15676_15677insTTCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-134_1564-133insTTCTCT | ENSP00000512083.1:n.1564-134_1564-133insTTCTCT | |
| ENST00000695654.1:c.811-134_811-133insTTCTCT | ENSP00000512085.1:n.811-134_811-133insTTCTCT | |
| ENST00000695655.1:c.592-98_592-97insTTCTCT | ENSP00000512086.1:n.592-98_592-97insTTCTCT | |
| ENST00000695692.1:n.1051-134_1051-133insTTCTCT | ||
| ENST00000245907.11:c.1687-134_1687-133insTTCTCT MANE Select | ENSP00000245907.4:n.1687-134_1687-133insTTCTCT | |
| ENST00000245907.10:c.1687-134_1687-133insTTCTCT | ENSP00000245907.4:n.1687-134_1687-133insTTCTCT | |
| ENST00000600763.1:n.320-134_320-133insTTCTCT | ||
| NM_000064.3:c.1687-134_1687-133insTTCTCT | NP_000055.2:n.1687-134_1687-133insTTCTCT | |
| NM_000064.4:c.1687-134_1687-133insTTCTCT MANE Select | NP_000055.2:n.1687-134_1687-133insTTCTCT |