Linked Data
ClinVar Variation Id:
208637
ClinVar RCV Id:
RCV000190641
dbSNP Id:
rs797045115
MyVariant Identifiers:
chr15:g.91334069_91334070insTATCA (hg19)
chr15:g.90790839_90790840insTATCA (hg38)
PubMed:
PMID:26296701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90790839_90790840insTATCA , CM000677.2:g.90790839_90790840insTATCA | GRCh38 |
| NC_000015.9:g.91334069_91334070insTATCA , CM000677.1:g.91334069_91334070insTATCA | GRCh37 |
| NC_000015.8:g.89135073_89135074insTATCA | NCBI36 |
| NG_007272.1:g.78468_78469insTATCA , LRG_20:g.78468_78469insTATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3014_3015insTATCA MANE Select | ENSP00000347232.3:p.Met1006IlefsTer3 | |
| ENST00000560559.2:n.1587_1588insTATCA | ||
| ENST00000648453.1:c.3014_3015insTATCA | ENSP00000497646.1:p.Met1006IlefsTer3 | |
| ENST00000680772.1:c.3014_3015insTATCA | ENSP00000506117.1:p.Met1006IlefsTer3 | |
| ENST00000681142.1:c.3014_3015insTATCA | ENSP00000506682.1:p.Met1006IlefsTer3 | |
| ENST00000355112.7:c.3014_3015insTATCA | ENSP00000347232.3:p.Met1006IlefsTer3 | |
| ENST00000559724.5:c.*1938_*1939insTATCA | ENSP00000453359.1:n.*1938_*1939insTATCA | |
| ENST00000560136.5:n.1040_1041insTATCA | ||
| ENST00000560509.5:c.3014_3015insTATCA | ENSP00000454158.1:p.Met1006IlefsTer3 | |
| ENST00000560559.1:n.551_552insTATCA | ||
| NM_000057.3:c.3014_3015insTATCA | NP_000048.1:p.Met1006IlefsTer3 | |
| NM_001287246.1:c.3014_3015insTATCA | NP_001274175.1:p.Met1006IlefsTer3 | |
| NM_001287247.1:c.3014_3015insTATCA | NP_001274176.1:p.Met1006IlefsTer3 | |
| NM_001287248.1:c.1889_1890insTATCA | NP_001274177.1:p.Met631IlefsTer3 | |
| XM_006720632.2:c.1052_1053insTATCA | XP_006720695.1:p.Met352IlefsTer3 | |
| XM_011521881.1:c.1700_1701insTATCA | XP_011520183.1:p.Met568IlefsTer3 | |
| XM_011521881.2:c.1700_1701insTATCA | XP_011520183.1:p.Met568IlefsTer3 | |
| NM_000057.4:c.3014_3015insTATCA MANE Select | NP_000048.1:p.Met1006IlefsTer3 | |
| NM_001287246.2:c.3014_3015insTATCA | NP_001274175.1:p.Met1006IlefsTer3 | |
| NM_001287247.2:c.3014_3015insTATCA | NP_001274176.1:p.Met1006IlefsTer3 | |
| NM_001287248.2:c.1889_1890insTATCA | NP_001274177.1:p.Met631IlefsTer3 |