Linked Data
ClinVar Variation Id:
536688
ClinVar RCV Id:
RCV003318616
dbSNP Id:
rs1555391053
gnomAD v3:
15-38322336-T-TA
gnomAD v4:
15-38322336-T-TA
COSMIC:
COSM1167860
MyVariant Identifiers:
chr15:g.38614538dup (hg19)
chr15:g.38614538_38614539insA (hg19)
chr15:g.38322337dup (hg38)
PubMed:
PMID:17704776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38322337dup , CM000677.2:g.38322337dup | GRCh38 |
| NC_000015.9:g.38614538dup , CM000677.1:g.38614538dup | GRCh37 |
| NC_000015.8:g.36401830dup | NCBI36 |
| NG_008980.1:g.74487dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.304dup MANE Select | ENSP00000299084.4:p.Thr102AsnfsTer7 | |
| ENST00000299084.8:c.304dup | ENSP00000299084.4:p.Thr102AsnfsTer7 | |
| ENST00000561205.1:n.642dup | ||
| ENST00000561317.1:c.241dup | ENSP00000453680.1:p.Thr81AsnfsTer7 | |
| NM_152594.2:c.304dup | NP_689807.1:p.Thr102AsnfsTer7 | |
| XM_005254202.2:c.340dup | XP_005254259.1:p.Thr114AsnfsTer7 | |
| XM_005254203.3:c.82dup | XP_005254260.1:p.Thr28AsnfsTer7 | |
| XM_011521288.1:c.241dup | XP_011519590.1:p.Thr81AsnfsTer7 | |
| XM_011521289.1:c.241dup | XP_011519591.1:p.Thr81AsnfsTer7 | |
| XM_011521290.1:c.241dup | XP_011519592.1:p.Thr81AsnfsTer7 | |
| XM_005254202.3:c.340dup | XP_005254259.1:p.Thr114AsnfsTer7 | |
| XM_011521289.3:c.241dup | XP_011519591.1:p.Thr81AsnfsTer7 | |
| NM_152594.3:c.304dup MANE Select | NP_689807.1:p.Thr102AsnfsTer7 |