Linked Data
ClinVar Variation Id:
557794
ClinVar RCV Id:
RCV000673977
dbSNP Id:
rs1554375511
MyVariant Identifiers:
chr7:g.92517755dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517760dup , CM000669.2:g.92517760dup | GRCh38 |
| NC_000007.13:g.92147074dup , CM000669.1:g.92147074dup | GRCh37 |
| NC_000007.12:g.91985010dup | NCBI36 |
| NG_008341.1:g.15777dup | |
| NG_008341.2:g.15777dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.760dup MANE Select | ENSP00000248633.4:p.Ser254PhefsTer5 | |
| ENST00000248633.8:c.760dup | ENSP00000248633.4:p.Ser254PhefsTer5 | |
| ENST00000428214.5:c.760dup | ENSP00000394413.1:p.Ser254PhefsTer5 | |
| ENST00000438045.5:c.274-3788dup | ENSP00000410438.1:n.274-3788dup | |
| ENST00000484913.5:n.799dup | ||
| NM_000466.2:c.760dup | NP_000457.1:p.Ser254PhefsTer5 | |
| NM_001282677.1:c.760dup | NP_001269606.1:p.Ser254PhefsTer5 | |
| NM_001282678.1:c.136dup | NP_001269607.1:p.Ser46PhefsTer5 | |
| XR_242246.3:n.856dup | ||
| XR_242246.5:n.807dup | ||
| NM_000466.3:c.760dup MANE Select | NP_000457.1:p.Ser254PhefsTer5 | |
| NM_001282677.2:c.760dup | NP_001269606.1:p.Ser254PhefsTer5 | |
| NM_001282678.2:c.136dup | NP_001269607.1:p.Ser46PhefsTer5 |