Linked Data
ClinVar Variation Id:
3153
ClinVar RCV Id:
RCV000003303
dbSNP Id:
rs387906291
MyVariant Identifiers:
chr15:g.100589195dupC (hg19)
chr15:g.100589194_100589195insC (hg19)
chr15:g.100048990dupC (hg38)
chr15:g.100048989_100048990insC (hg38)
PubMed:
PMID:19836009
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.100048993dup , CM000677.2:g.100048993dup | GRCh38 |
| NC_000015.9:g.100589198dup , CM000677.1:g.100589198dup | GRCh37 |
| NC_000015.8:g.98406721dup | NCBI36 |
| NG_016287.1:g.297989dup | |
| NG_016287.2:g.297989dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268070.9:c.2458dup | ||
| ENST00000568565.2:c.2539dup | ||
| ENST00000268070.8:c.2458dup | ||
| NM_139057.2:c.2458dup | ||
| XM_005254872.2:c.2539dup | ||
| XM_011521312.1:c.2608dup | ||
| NM_139057.3:c.2458dup | ||
| XM_005254872.3:c.2539dup | ||
| XM_011521312.2:c.2608dup | ||
| XM_017021973.2:c.2740dup | ||
| XM_017021974.1:c.2740dup | ||
| XM_017021975.1:c.2671dup | ||
| XM_017021976.1:c.2011dup | ||
| XM_017021978.1:c.1642dup | ||
| XM_017021979.1:c.1420dup | ||
| XM_017021980.1:c.1420dup | ||
| XM_017021982.1:c.1129dup | ||
| XM_017021983.1:c.913dup | ||
| NM_139057.4:c.2458dup |