Linked Data
ClinVar Variation Id:
377392
ClinVar RCV Id:
RCV000420543
dbSNP Id:
rs1057519616
MyVariant Identifiers:
chr12:g.56847392dupG (hg19)
chr12:g.56847391_56847392insG (hg19)
chr12:g.56453608dupG (hg38)
chr12:g.56453607_56453608insG (hg38)
PubMed:
PMID:27456987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56453610dup , CM000674.2:g.56453610dup | GRCh38 |
| NC_000012.11:g.56847394dup , CM000674.1:g.56847394dup | GRCh37 |
| NC_000012.10:g.55133661dup | NCBI36 |
| NG_021397.1:g.6044dup | |
| NG_021397.2:g.20559dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648304.1:c.*132dup | ENSP00000497190.1:n.*132dup | |
| ENST00000648442.1:n.641dup | ||
| ENST00000650166.1:n.397dup | ||
| ENST00000652304.1:c.508dup MANE Select | ENSP00000498622.1:p.Leu170ProfsTer? | |
| ENST00000257979.4:c.508dup | ENSP00000257979.4:p.Leu170ProfsTer? | |
| ENST00000555551.1:n.464dup | ||
| NM_012064.3:c.508dup | NP_036196.1:p.Leu170ProfsTer? | |
| XM_011538354.1:c.223dup | XP_011536656.1:p.Leu75ProfsTer? | |
| NM_012064.4:c.508dup MANE Select | NP_036196.1:p.Leu170ProfsTer? | |
| XM_017019306.1:c.151dup | XP_016874795.1:p.Leu51ProfsTer? |