Linked Data
ClinVar Variation Id:
375779
ClinVar RCV Id:
RCV000417264
dbSNP Id:
rs1057519653
MyVariant Identifiers:
chr19:g.11213393_11213399dupTGCATTC (hg19)
chr19:g.11102717_11102723dupTGCATTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102717_11102723dup , CM000681.2:g.11102717_11102723dup | GRCh38 |
| NC_000019.9:g.11213393_11213399dup , CM000681.1:g.11213393_11213399dup | GRCh37 |
| NC_000019.8:g.11074393_11074399dup | NCBI36 |
| NG_009060.1:g.18337_18343dup , LRG_274:g.18337_18343dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.502_508dup | ENSP00000252444.6:p.Pro170LeufsTer? | |
| ENST00000559340.2:c.244_250dup | ENSP00000453696.2:p.Pro84LeufsTer? | |
| ENST00000560467.2:c.244_250dup | ENSP00000453513.2:p.Pro84LeufsTer? | |
| ENST00000558518.6:c.244_250dup MANE Select | ENSP00000454071.1:p.Pro84LeufsTer? | |
| ENST00000252444.9:c.498_504dup | ||
| ENST00000455727.6:c.244_250dup | ENSP00000397829.2:p.Pro84LeufsTer? | |
| ENST00000535915.5:c.190+2372_190+2378dup | ENSP00000440520.1:n.190+2372_190+2378dup | |
| ENST00000545707.5:c.244_250dup | ENSP00000437639.1:p.Pro84LeufsTer31 | |
| ENST00000557933.5:c.244_250dup | ENSP00000453557.1:p.Pro84LeufsTer? | |
| ENST00000557958.1:n.330_336dup | ||
| ENST00000558013.5:c.244_250dup | ENSP00000453346.1:p.Pro84LeufsTer? | |
| ENST00000558518.5:c.244_250dup | ENSP00000454071.1:p.Pro84LeufsTer? | |
| NM_000527.4:c.244_250dup , LRG_274t1:c.244_250dup | NP_000518.1:p.Pro84LeufsTer? | |
| NM_001195798.1:c.244_250dup | NP_001182727.1:p.Pro84LeufsTer? | |
| NM_001195799.1:c.190+2372_190+2378dup | NP_001182728.1:n.190+2372_190+2378dup | |
| NM_001195800.1:c.244_250dup | NP_001182729.1:p.Pro84LeufsTer? | |
| NM_001195803.1:c.244_250dup | NP_001182732.1:p.Pro84LeufsTer31 | |
| XM_011528010.1:c.244_250dup | XP_011526312.1:p.Pro84LeufsTer? | |
| XM_011528011.1:c.244_250dup | XP_011526313.1:p.Pro84LeufsTer31 | |
| XR_244074.2:n.394_400dup | ||
| XM_011528010.2:c.244_250dup | XP_011526312.1:p.Pro84LeufsTer? | |
| XR_001753685.2:n.361_367dup | ||
| XR_001753686.2:n.361_367dup | ||
| NM_000527.5:c.244_250dup MANE Select | NP_000518.1:p.Pro84LeufsTer? | |
| NM_001195798.2:c.244_250dup | NP_001182727.1:p.Pro84LeufsTer? | |
| NM_001195799.2:c.190+2372_190+2378dup | NP_001182728.1:n.190+2372_190+2378dup | |
| NM_001195800.2:c.244_250dup | NP_001182729.1:p.Pro84LeufsTer? | |
| NM_001195803.2:c.244_250dup | NP_001182732.1:p.Pro84LeufsTer31 |