Linked Data
dbSNP Id:
rs1244351855
gnomAD v2:
19-11212453-G-GTA
gnomAD v3:
19-11101777-G-GTA
gnomAD v4:
19-11101777-G-GTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11101787_11101788dup , CM000681.2:g.11101787_11101788dup | GRCh38 |
| NC_000019.9:g.11212463_11212464dup , CM000681.1:g.11212463_11212464dup | GRCh37 |
| NC_000019.8:g.11073463_11073464dup | NCBI36 |
| NG_009060.1:g.17407_17408dup , LRG_274:g.17407_17408dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.449-877_449-876dup | ENSP00000252444.6:n.449-877_449-876dup | |
| ENST00000559340.2:c.191-877_191-876dup | ENSP00000453696.2:n.191-877_191-876dup | |
| ENST00000560467.2:c.191-877_191-876dup | ENSP00000453513.2:n.191-877_191-876dup | |
| ENST00000558518.6:c.191-877_191-876dup MANE Select | ENSP00000454071.1:n.191-877_191-876dup | |
| ENST00000252444.9:c.445-877_445-876dup | ||
| ENST00000455727.6:c.191-877_191-876dup | ENSP00000397829.2:n.191-877_191-876dup | |
| ENST00000535915.5:c.190+1442_190+1443dup | ENSP00000440520.1:n.190+1442_190+1443dup | |
| ENST00000545707.5:c.191-877_191-876dup | ENSP00000437639.1:n.191-877_191-876dup | |
| ENST00000557933.5:c.191-877_191-876dup | ENSP00000453557.1:n.191-877_191-876dup | |
| ENST00000557958.1:n.277-877_277-876dup | ||
| ENST00000558013.5:c.191-877_191-876dup | ENSP00000453346.1:n.191-877_191-876dup | |
| ENST00000558518.5:c.191-877_191-876dup | ENSP00000454071.1:n.191-877_191-876dup | |
| NM_000527.4:c.191-877_191-876dup , LRG_274t1:c.191-877_191-876dup | NP_000518.1:n.191-877_191-876dup | |
| NM_001195798.1:c.191-877_191-876dup | NP_001182727.1:n.191-877_191-876dup | |
| NM_001195799.1:c.190+1442_190+1443dup | NP_001182728.1:n.190+1442_190+1443dup | |
| NM_001195800.1:c.191-877_191-876dup | NP_001182729.1:n.191-877_191-876dup | |
| NM_001195803.1:c.191-877_191-876dup | NP_001182732.1:n.191-877_191-876dup | |
| XM_011528010.1:c.191-877_191-876dup | XP_011526312.1:n.191-877_191-876dup | |
| XM_011528011.1:c.191-877_191-876dup | XP_011526313.1:n.191-877_191-876dup | |
| XR_244074.2:n.341-877_341-876dup | ||
| XM_011528010.2:c.191-877_191-876dup | XP_011526312.1:n.191-877_191-876dup | |
| XR_001753685.2:n.308-877_308-876dup | ||
| XR_001753686.2:n.308-877_308-876dup | ||
| NM_000527.5:c.191-877_191-876dup MANE Select | NP_000518.1:n.191-877_191-876dup | |
| NM_001195798.2:c.191-877_191-876dup | NP_001182727.1:n.191-877_191-876dup | |
| NM_001195799.2:c.190+1442_190+1443dup | NP_001182728.1:n.190+1442_190+1443dup | |
| NM_001195800.2:c.191-877_191-876dup | NP_001182729.1:n.191-877_191-876dup | |
| NM_001195803.2:c.191-877_191-876dup | NP_001182732.1:n.191-877_191-876dup |