Linked Data
ClinVar Variation Id:
555382
dbSNP Id:
rs1553411890
MyVariant Identifiers:
chr1:g.21561098dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21561098dup , CM000663.2:g.21561098dup | GRCh38 |
| NC_000001.10:g.21887591dup , CM000663.1:g.21887591dup | GRCh37 |
| NC_000001.9:g.21760178dup | NCBI36 |
| NG_008940.1:g.56734dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.183dup | ||
| ENST00000374832.5:c.183dup | ||
| ENST00000374840.7:c.183dup | ||
| ENST00000468526.1:n.243dup | ||
| ENST00000539907.5:c.66+353dup | ENSP00000437674.1:n.66+353dup | |
| ENST00000540617.5:c.18dup | ||
| NM_000478.4:c.183dup | ||
| NM_001127501.2:c.18dup | ||
| NM_001177520.1:c.66+353dup | NP_001170991.1:n.66+353dup | |
| XM_005245818.1:c.183dup | ||
| XM_005245820.2:c.183dup | ||
| XM_006710546.1:c.183dup | ||
| NM_000478.5:c.183dup | ||
| NM_001127501.3:c.18dup | ||
| NM_001177520.2:c.66+353dup | NP_001170991.1:n.66+353dup | |
| XM_006710546.3:c.183dup | ||
| XM_017000903.1:c.67-40dup | XP_016856392.1:n.67-40dup | |
| NM_000478.6:c.183dup | ||
| NM_001127501.4:c.18dup | ||
| NM_001177520.3:c.66+353dup | NP_001170991.1:n.66+353dup | |
| NM_001369803.2:c.183dup | ||
| NM_001369804.2:c.183dup | ||
| NM_001369805.2:c.183dup |