Linked Data
ClinVar Variation Id:
251821
ClinVar RCV Id:
RCV000237549
dbSNP Id:
rs879254886
MyVariant Identifiers:
chr19:g.11224231_11224248delinsCAGCTTA (hg19)
chr19:g.11113555_11113572delinsCAGCTTA (hg38)
PubMed:
PMID:22881376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11113555_11113572delinsCAGCTTA , CM000681.2:g.11113555_11113572delinsCAGCTTA | GRCh38 |
| NC_000019.9:g.11224231_11224248delinsCAGCTTA , CM000681.1:g.11224231_11224248delinsCAGCTTA | GRCh37 |
| NC_000019.8:g.11085231_11085248delinsCAGCTTA | NCBI36 |
| NG_009060.1:g.29175_29192delinsCAGCTTA , LRG_274:g.29175_29192delinsCAGCTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1637_1654delinsCAGCTTA | ENSP00000252444.6:p.His546ProfsTer3 | |
| ENST00000559340.2:c.1379_1396delinsCAGCTTA | ENSP00000453696.2:p.His460ProfsTer3 | |
| ENST00000560467.2:c.1259_1276delinsCAGCTTA | ENSP00000453513.2:p.His420ProfsTer3 | |
| ENST00000558518.6:c.1379_1396delinsCAGCTTA MANE Select | ENSP00000454071.1:p.His460ProfsTer3 | |
| ENST00000252444.9:c.1633_1650delinsCAGCTTA | ||
| ENST00000455727.6:c.875_892delinsCAGCTTA | ENSP00000397829.2:p.His292ProfsTer3 | |
| ENST00000535915.5:c.1256_1273delinsCAGCTTA | ENSP00000440520.1:p.His419ProfsTer3 | |
| ENST00000545707.5:c.998_1015delinsCAGCTTA | ENSP00000437639.1:p.His333ProfsTer3 | |
| ENST00000557933.5:c.1379_1396delinsCAGCTTA | ENSP00000453557.1:p.His460ProfsTer3 | |
| ENST00000558013.5:c.1379_1396delinsCAGCTTA | ENSP00000453346.1:p.His460ProfsTer3 | |
| ENST00000558518.5:c.1379_1396delinsCAGCTTA | ENSP00000454071.1:p.His460ProfsTer3 | |
| ENST00000559340.1:c.100_117delinsCAGCTTA | ||
| ENST00000560467.1:c.859_876delinsCAGCTTA | ||
| NM_000527.4:c.1379_1396delinsCAGCTTA , LRG_274t1:c.1379_1396delinsCAGCTTA | NP_000518.1:p.His460ProfsTer3 | |
| NM_001195798.1:c.1379_1396delinsCAGCTTA | NP_001182727.1:p.His460ProfsTer3 | |
| NM_001195799.1:c.1256_1273delinsCAGCTTA | NP_001182728.1:p.His419ProfsTer3 | |
| NM_001195800.1:c.875_892delinsCAGCTTA | NP_001182729.1:p.His292ProfsTer3 | |
| NM_001195803.1:c.998_1015delinsCAGCTTA | NP_001182732.1:p.His333ProfsTer3 | |
| XM_011528010.1:c.1379_1396delinsCAGCTTA | XP_011526312.1:p.His460ProfsTer3 | |
| XM_011528011.1:c.998_1015delinsCAGCTTA | XP_011526313.1:p.His333ProfsTer3 | |
| XR_244074.2:n.1529_1546delinsCAGCTTA | ||
| XM_011528010.2:c.1379_1396delinsCAGCTTA | XP_011526312.1:p.His460ProfsTer3 | |
| XR_001753685.2:n.1496_1513delinsCAGCTTA | ||
| XR_001753686.2:n.1496_1513delinsCAGCTTA | ||
| NM_000527.5:c.1379_1396delinsCAGCTTA MANE Select | NP_000518.1:p.His460ProfsTer3 | |
| NM_001195798.2:c.1379_1396delinsCAGCTTA | NP_001182727.1:p.His460ProfsTer3 | |
| NM_001195799.2:c.1256_1273delinsCAGCTTA | NP_001182728.1:p.His419ProfsTer3 | |
| NM_001195800.2:c.875_892delinsCAGCTTA | NP_001182729.1:p.His292ProfsTer3 | |
| NM_001195803.2:c.998_1015delinsCAGCTTA | NP_001182732.1:p.His333ProfsTer3 |