Linked Data
dbSNP Id:
rs1190015782
gnomAD v2:
19-11230907-G-GAGGTA
gnomAD v3:
19-11120231-G-GAGGTA
gnomAD v4:
19-11120231-G-GAGGTA
MyVariant Identifiers:
chr19:g.11230907_11230908insAGGTA (hg19)
chr19:g.11120231_11120232insAGGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120235_11120239dup , CM000681.2:g.11120235_11120239dup | GRCh38 |
| NC_000019.9:g.11230911_11230915dup , CM000681.1:g.11230911_11230915dup | GRCh37 |
| NC_000019.8:g.11091911_11091915dup | NCBI36 |
| NG_009060.1:g.35855_35859dup , LRG_274:g.35855_35859dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2245+2_2245+6dup | ||
| ENST00000559340.2:c.*56+2_*56+6dup | ||
| ENST00000560467.2:c.1867+2_1867+6dup | ||
| ENST00000558518.6:c.1987+2_1987+6dup | ||
| ENST00000252444.9:c.2241+2_2241+6dup | ||
| ENST00000455727.6:c.1483+2_1483+6dup | ||
| ENST00000535915.5:c.1864+2_1864+6dup | ||
| ENST00000545707.5:c.1606+2_1606+6dup | ||
| ENST00000557933.5:c.1987+2_1987+6dup | ||
| ENST00000558013.5:c.1987+2_1987+6dup | ||
| ENST00000558518.5:c.1987+2_1987+6dup | ||
| ENST00000559340.1:c.568+2_568+6dup | ||
| NM_000527.4:c.1987+2_1987+6dup , LRG_274t1:c.1987+2_1987+6dup | ||
| NM_001195798.1:c.1987+2_1987+6dup | ||
| NM_001195799.1:c.1864+2_1864+6dup | ||
| NM_001195800.1:c.1483+2_1483+6dup | ||
| NM_001195803.1:c.1606+2_1606+6dup | ||
| XM_011528010.1:c.1987+2_1987+6dup | ||
| XM_011528011.1:c.1606+2_1606+6dup | ||
| XR_244074.2:n.1997+2_1997+6dup | ||
| XM_011528010.2:c.1987+2_1987+6dup | ||
| XR_001753685.2:n.2104+2_2104+6dup | ||
| XR_001753686.2:n.1964+2_1964+6dup | ||
| NM_000527.5:c.1987+2_1987+6dup | ||
| NM_001195798.2:c.1987+2_1987+6dup | ||
| NM_001195799.2:c.1864+2_1864+6dup | ||
| NM_001195800.2:c.1483+2_1483+6dup | ||
| NM_001195803.2:c.1606+2_1606+6dup |