Linked Data
ClinVar Variation Id:
5655
ClinVar RCV Id:
RCV000006009
dbSNP Id:
rs387906339
MyVariant Identifiers:
chr1:g.186282885_186282886delinsAG (hg19)
chr1:g.186313753_186313754delinsAG (hg38)
PubMed:
PMID:10545950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186313753_186313754delinsAG , CM000663.2:g.186313753_186313754delinsAG | GRCh38 |
| NC_000001.10:g.186282885_186282886delinsAG , CM000663.1:g.186282885_186282886delinsAG | GRCh37 |
| NC_000001.9:g.184549508_184549509delinsAG | NCBI36 |
| NG_008248.2:g.22468_22469delinsAG | |
| NG_023284.1:g.66572_66573delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367478.9:c.*217_*218delinsCT (TPR) MANE Select | ENSP00000356448.3:n.*217_*218delinsCT | |
| ENST00000445192.7:c.4190_4191delinsAG (PRG4) MANE Select | ENSP00000399679.3:p.Ser1397Ter | |
| ENST00000367478.8:c.*217_*218delinsCT (TPR) | ENSP00000356448.3:n.*217_*218delinsCT | |
| ENST00000367483.8:c.4067_4068delinsAG (PRG4) | ENSP00000356453.4:p.Ser1356Ter | |
| ENST00000367485.4:c.3911_3912delinsAG (PRG4) | ENSP00000356455.4:p.Ser1304Ter | |
| ENST00000445192.6:c.4190_4191delinsAG (PRG4) | ENSP00000399679.2:p.Ser1397Ter | |
| ENST00000635041.1:c.4061_4062delinsAG (PRG4) | ENSP00000489292.1:p.Ser1354Ter | |
| NM_001127708.2:c.4067_4068delinsAG (PRG4) | NP_001121180.2:p.Ser1356Ter | |
| NM_001127709.2:c.3911_3912delinsAG (PRG4) | NP_001121181.2:p.Ser1304Ter | |
| NM_001127710.2:c.3788_3789delinsAG (PRG4) | NP_001121182.2:p.Ser1263Ter | |
| NM_001303232.1:c.4061_4062delinsAG (PRG4) | NP_001290161.1:p.Ser1354Ter | |
| NM_003292.2:c.*217_*218delinsCT (TPR) | NP_003283.2:n.*217_*218delinsCT | |
| NM_005807.4:c.4190_4191delinsAG (PRG4) | NP_005798.3:p.Ser1397Ter | |
| XM_024448707.1:c.4190_4191delinsAG (PRG4) | XP_024304475.1:p.Ser1397Ter | |
| XM_024448717.1:c.4067_4068delinsAG (PRG4) | XP_024304485.1:p.Ser1356Ter | |
| NM_003292.3:c.*217_*218delinsCT (TPR) MANE Select | NP_003283.2:n.*217_*218delinsCT | |
| NM_001127708.3:c.4067_4068delinsAG (PRG4) | NP_001121180.2:p.Ser1356Ter | |
| NM_001127709.3:c.3911_3912delinsAG (PRG4) | NP_001121181.2:p.Ser1304Ter | |
| NM_001127710.3:c.3788_3789delinsAG (PRG4) | NP_001121182.2:p.Ser1263Ter | |
| NM_001303232.2:c.4061_4062delinsAG (PRG4) | NP_001290161.1:p.Ser1354Ter | |
| NM_005807.6:c.4190_4191delinsAG (PRG4) MANE Select | NP_005798.3:p.Ser1397Ter |