Identifiers and link-outs to other resources
ClinVar Variation Id:
53883
dbSNP Id:
rs397508668
MyVariant Identifiers:
chr7:g.117304855_117304858delinsAA (hg19)
chr7:g.117664801_117664804delinsAA (hg38)
User contributed link-outs
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664801_117664804delinsAA , CM000669.2:g.117664801_117664804delinsAA | GRCh38 |
| NC_000007.13:g.117304855_117304858delinsAA , CM000669.1:g.117304855_117304858delinsAA | GRCh37 |
| NC_000007.12:g.117092091_117092094delinsAA | NCBI36 |
| NG_016465.4:g.204018_204021delinsAA , LRG_663:g.204018_204021delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000492.3:c.4077_4080delinsAA , LRG_663t1:c.4077_4080delinsAA | NP_000483.3:p.Val1360ThrfsTer3 | |
| XM_011515751.1:c.4167_4170delinsAA | XP_011514053.1:p.Val1390ThrfsTer3 | |
| XM_011515752.1:c.4167_4170delinsAA | XP_011514054.1:p.Val1390ThrfsTer3 | |
| XM_011515753.1:c.3834_3837delinsAA | XP_011514055.1:p.Val1279ThrfsTer3 | |
| XM_011515754.1:c.3834_3837delinsAA | XP_011514056.1:p.Val1279ThrfsTer3 | |
| NM_000492.4:c.4077_4080delinsAA VV MANE Preferred | NP_000483.3:p.Val1360ThrfsTer3 | |
| ENST00000003084.10:c.4077_4080delinsAA | ENSP00000003084.6:p.Val1360ThrfsTer3 | |
| ENST00000426809.5:n.3987_3990delinsAA | ENSP00000389119.1:p.Val1330ThrfsTer3 | |
| ENST00000600166.1:n.203_206delinsAA |