Linked Data
ClinVar Variation Id:
554135
ClinVar RCV Id:
RCV000669706
dbSNP Id:
rs1553256587
MyVariant Identifiers:
chr1:g.215728362dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728363dup , CM000663.2:g.215728363dup | GRCh38 |
| NC_000001.10:g.215901705dup , CM000663.1:g.215901705dup | GRCh37 |
| NC_000001.9:g.213968328dup | NCBI36 |
| NG_009497.1:g.700035dup | |
| NG_009497.2:g.700087dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11734dup MANE Select | ENSP00000305941.3:p.Glu3912GlyfsTer13 | |
| ENST00000674083.1:c.11734dup | ENSP00000501296.1:p.Glu3912GlyfsTer13 | |
| ENST00000307340.7:c.11734dup | ENSP00000305941.3:p.Glu3912GlyfsTer13 | |
| NM_206933.2:c.11734dup | NP_996816.2:p.Glu3912GlyfsTer13 | |
| NM_206933.3:c.11734dup | NP_996816.2:p.Glu3912GlyfsTer13 | |
| NM_206933.4:c.11734dup MANE Select | NP_996816.3:p.Glu3912GlyfsTer13 |