Linked Data
ClinVar Variation Id:
3531
ClinVar RCV Id:
RCV000003709
dbSNP Id:
rs1553713075
MyVariant Identifiers:
chr3:g.50339601_50339637delinsCGGGCCACACGGAA (hg19)
chr3:g.50302170_50302206delinsCGGGCCACACGGAA (hg38)
PubMed:
PMID:10339581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50302170_50302206delinsCGGGCCACACGGAA , CM000665.2:g.50302170_50302206delinsCGGGCCACACGGAA | GRCh38 |
| NC_000003.11:g.50339601_50339637delinsCGGGCCACACGGAA , CM000665.1:g.50339601_50339637delinsCGGGCCACACGGAA | GRCh37 |
| NC_000003.10:g.50314605_50314641delinsCGGGCCACACGGAA | NCBI36 |
| NG_009295.1:g.15176_15212delinsTTCCGTGTGGCCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395144.7:c.751_787delinsTTCCGTGTGGCCCG MANE Select | ENSP00000378576.2:p.Val251PhefsTer20 | |
| ENST00000266031.8:c.751_787delinsTTCCGTGTGGCCCG | ENSP00000266031.4:p.Val251PhefsTer20 | |
| ENST00000320295.12:c.751_787delinsTTCCGTGTGGCCCG | ENSP00000346068.5:p.Val251PhefsTer20 | |
| ENST00000395143.6:c.751_787delinsTTCCGTGTGGCCCG | ENSP00000378575.2:p.Val251PhefsTer20 | |
| ENST00000395144.6:c.751_787delinsTTCCGTGTGGCCCG | ENSP00000378576.2:p.Val251PhefsTer20 | |
| ENST00000447605.2:c.-26-1_10delinsTTCCGTGTGGCCCG | ||
| ENST00000457214.6:c.205_241delinsTTCCGTGTGGCCCG | ENSP00000393358.2:p.Val69PhefsTer20 | |
| ENST00000618175.4:c.751_787delinsTTCCGTGTGGCCCG | ENSP00000477903.1:p.Val251PhefsTer20 | |
| NM_033159.3:c.751_787delinsTTCCGTGTGGCCCG | NP_149349.2:p.Val251PhefsTer20 | |
| NM_153281.1:c.751_787delinsTTCCGTGTGGCCCG | NP_695013.1:p.Val251PhefsTer20 | |
| NM_153282.2:c.751_787delinsTTCCGTGTGGCCCG | NP_695014.1:p.Val251PhefsTer20 | |
| NM_153283.2:c.205_241delinsTTCCGTGTGGCCCG | NP_695015.1:p.Val69PhefsTer20 | |
| NM_153285.2:c.-26-1_10delinsTTCCGTGTGGCCCG | ||
| NR_047690.1:n.1396_1432delinsTTCCGTGTGGCCCG | ||
| XM_011533667.1:c.751_787delinsTTCCGTGTGGCCCG | XP_011531969.1:p.Val251PhefsTer20 | |
| XM_011533668.1:c.751_787delinsTTCCGTGTGGCCCG | XP_011531970.1:p.Val251PhefsTer20 | |
| XM_011533669.1:c.751_787delinsTTCCGTGTGGCCCG | XP_011531971.1:p.Val251PhefsTer20 | |
| XM_011533667.2:c.751_787delinsTTCCGTGTGGCCCG | XP_011531969.1:p.Val251PhefsTer20 | |
| XM_011533668.2:c.751_787delinsTTCCGTGTGGCCCG | XP_011531970.1:p.Val251PhefsTer20 | |
| XM_011533669.2:c.751_787delinsTTCCGTGTGGCCCG | XP_011531971.1:p.Val251PhefsTer20 | |
| NM_033159.4:c.751_787delinsTTCCGTGTGGCCCG MANE Select | NP_149349.2:p.Val251PhefsTer20 | |
| NM_153282.3:c.751_787delinsTTCCGTGTGGCCCG | NP_695014.1:p.Val251PhefsTer20 | |
| NM_153283.3:c.205_241delinsTTCCGTGTGGCCCG | NP_695015.1:p.Val69PhefsTer20 | |
| NM_153285.3:c.-26-1_10delinsTTCCGTGTGGCCCG | ||
| NR_047690.2:n.1369_1405delinsTTCCGTGTGGCCCG | ||
| NM_153281.2:c.751_787delinsTTCCGTGTGGCCCG | NP_695013.1:p.Val251PhefsTer20 |