Linked Data
dbSNP Id:
rs1341233107
gnomAD v2:
19-11230668-A-AACAAACAAACAG
gnomAD v3:
19-11119992-A-AACAAACAAACAG
gnomAD v4:
19-11119992-A-AACAAACAAACAG
MyVariant Identifiers:
chr19:g.11230668_11230669insACAAACAAACAG (hg19)
chr19:g.11119992_11119993insACAAACAAACAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11119999_11120000insAACAGACAAACA , CM000681.2:g.11119999_11120000insAACAGACAAACA | GRCh38 |
| NC_000019.9:g.11230675_11230676insAACAGACAAACA , CM000681.1:g.11230675_11230676insAACAGACAAACA | GRCh37 |
| NC_000019.8:g.11091675_11091676insAACAGACAAACA | NCBI36 |
| NG_009060.1:g.35619_35620insAACAGACAAACA , LRG_274:g.35619_35620insAACAGACAAACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2104-93_2104-92insAACAGACAAACA | ENSP00000252444.6:n.2104-93_2104-92insAACAGACAAACA | |
| ENST00000559340.2:c.1706-93_1706-92insAACAGACAAACA | ENSP00000453696.2:n.1706-93_1706-92insAACAGACAAACA | |
| ENST00000560467.2:c.1726-93_1726-92insAACAGACAAACA | ENSP00000453513.2:n.1726-93_1726-92insAACAGACAAACA | |
| ENST00000558518.6:c.1846-93_1846-92insAACAGACAAACA MANE Select | ENSP00000454071.1:n.1846-93_1846-92insAACAGACAAACA | |
| ENST00000252444.9:c.2100-93_2100-92insAACAGACAAACA | ||
| ENST00000455727.6:c.1342-93_1342-92insAACAGACAAACA | ENSP00000397829.2:n.1342-93_1342-92insAACAGACAAACA | |
| ENST00000535915.5:c.1723-93_1723-92insAACAGACAAACA | ENSP00000440520.1:n.1723-93_1723-92insAACAGACAAACA | |
| ENST00000545707.5:c.1465-93_1465-92insAACAGACAAACA | ENSP00000437639.1:n.1465-93_1465-92insAACAGACAAACA | |
| ENST00000557933.5:c.1846-93_1846-92insAACAGACAAACA | ENSP00000453557.1:n.1846-93_1846-92insAACAGACAAACA | |
| ENST00000558013.5:c.1846-93_1846-92insAACAGACAAACA | ENSP00000453346.1:n.1846-93_1846-92insAACAGACAAACA | |
| ENST00000558518.5:c.1846-93_1846-92insAACAGACAAACA | ENSP00000454071.1:n.1846-93_1846-92insAACAGACAAACA | |
| ENST00000559340.1:c.427-93_427-92insAACAGACAAACA | ||
| NM_000527.4:c.1846-93_1846-92insAACAGACAAACA , LRG_274t1:c.1846-93_1846-92insAACAGACAAACA | NP_000518.1:n.1846-93_1846-92insAACAGACAAACA | |
| NM_001195798.1:c.1846-93_1846-92insAACAGACAAACA | NP_001182727.1:n.1846-93_1846-92insAACAGACAAACA | |
| NM_001195799.1:c.1723-93_1723-92insAACAGACAAACA | NP_001182728.1:n.1723-93_1723-92insAACAGACAAACA | |
| NM_001195800.1:c.1342-93_1342-92insAACAGACAAACA | NP_001182729.1:n.1342-93_1342-92insAACAGACAAACA | |
| NM_001195803.1:c.1465-93_1465-92insAACAGACAAACA | NP_001182732.1:n.1465-93_1465-92insAACAGACAAACA | |
| XM_011528010.1:c.1846-93_1846-92insAACAGACAAACA | XP_011526312.1:n.1846-93_1846-92insAACAGACAAACA | |
| XM_011528011.1:c.1465-93_1465-92insAACAGACAAACA | XP_011526313.1:n.1465-93_1465-92insAACAGACAAACA | |
| XR_244074.2:n.1856-93_1856-92insAACAGACAAACA | ||
| XM_011528010.2:c.1846-93_1846-92insAACAGACAAACA | XP_011526312.1:n.1846-93_1846-92insAACAGACAAACA | |
| XR_001753685.2:n.1963-93_1963-92insAACAGACAAACA | ||
| XR_001753686.2:n.1823-93_1823-92insAACAGACAAACA | ||
| NM_000527.5:c.1846-93_1846-92insAACAGACAAACA MANE Select | NP_000518.1:n.1846-93_1846-92insAACAGACAAACA | |
| NM_001195798.2:c.1846-93_1846-92insAACAGACAAACA | NP_001182727.1:n.1846-93_1846-92insAACAGACAAACA | |
| NM_001195799.2:c.1723-93_1723-92insAACAGACAAACA | NP_001182728.1:n.1723-93_1723-92insAACAGACAAACA | |
| NM_001195800.2:c.1342-93_1342-92insAACAGACAAACA | NP_001182729.1:n.1342-93_1342-92insAACAGACAAACA | |
| NM_001195803.2:c.1465-93_1465-92insAACAGACAAACA | NP_001182732.1:n.1465-93_1465-92insAACAGACAAACA |