Linked Data
dbSNP Id:
rs979669428
gnomAD v2:
19-11212995-T-TTG
gnomAD v3:
19-11102319-T-TTG
gnomAD v4:
19-11102319-T-TTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102334_11102335dup , CM000681.2:g.11102334_11102335dup | GRCh38 |
| NC_000019.9:g.11213010_11213011dup , CM000681.1:g.11213010_11213011dup | GRCh37 |
| NC_000019.8:g.11074010_11074011dup | NCBI36 |
| NG_009060.1:g.17954_17955dup , LRG_274:g.17954_17955dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.449-330_449-329dup | ENSP00000252444.6:n.449-330_449-329dup | |
| ENST00000559340.2:c.191-330_191-329dup | ENSP00000453696.2:n.191-330_191-329dup | |
| ENST00000560467.2:c.191-330_191-329dup | ENSP00000453513.2:n.191-330_191-329dup | |
| ENST00000558518.6:c.191-330_191-329dup MANE Select | ENSP00000454071.1:n.191-330_191-329dup | |
| ENST00000252444.9:c.445-330_445-329dup | ||
| ENST00000455727.6:c.191-330_191-329dup | ENSP00000397829.2:n.191-330_191-329dup | |
| ENST00000535915.5:c.190+1989_190+1990dup | ENSP00000440520.1:n.190+1989_190+1990dup | |
| ENST00000545707.5:c.191-330_191-329dup | ENSP00000437639.1:n.191-330_191-329dup | |
| ENST00000557933.5:c.191-330_191-329dup | ENSP00000453557.1:n.191-330_191-329dup | |
| ENST00000557958.1:n.277-330_277-329dup | ||
| ENST00000558013.5:c.191-330_191-329dup | ENSP00000453346.1:n.191-330_191-329dup | |
| ENST00000558518.5:c.191-330_191-329dup | ENSP00000454071.1:n.191-330_191-329dup | |
| NM_000527.4:c.191-330_191-329dup , LRG_274t1:c.191-330_191-329dup | NP_000518.1:n.191-330_191-329dup | |
| NM_001195798.1:c.191-330_191-329dup | NP_001182727.1:n.191-330_191-329dup | |
| NM_001195799.1:c.190+1989_190+1990dup | NP_001182728.1:n.190+1989_190+1990dup | |
| NM_001195800.1:c.191-330_191-329dup | NP_001182729.1:n.191-330_191-329dup | |
| NM_001195803.1:c.191-330_191-329dup | NP_001182732.1:n.191-330_191-329dup | |
| XM_011528010.1:c.191-330_191-329dup | XP_011526312.1:n.191-330_191-329dup | |
| XM_011528011.1:c.191-330_191-329dup | XP_011526313.1:n.191-330_191-329dup | |
| XR_244074.2:n.341-330_341-329dup | ||
| XM_011528010.2:c.191-330_191-329dup | XP_011526312.1:n.191-330_191-329dup | |
| XR_001753685.2:n.308-330_308-329dup | ||
| XR_001753686.2:n.308-330_308-329dup | ||
| NM_000527.5:c.191-330_191-329dup MANE Select | NP_000518.1:n.191-330_191-329dup | |
| NM_001195798.2:c.191-330_191-329dup | NP_001182727.1:n.191-330_191-329dup | |
| NM_001195799.2:c.190+1989_190+1990dup | NP_001182728.1:n.190+1989_190+1990dup | |
| NM_001195800.2:c.191-330_191-329dup | NP_001182729.1:n.191-330_191-329dup | |
| NM_001195803.2:c.191-330_191-329dup | NP_001182732.1:n.191-330_191-329dup |