Linked Data
ClinVar Variation Id:
1200382
dbSNP Id:
rs1425790333
gnomAD v2:
13-48563032-A-ACTCCTCCT
gnomAD v3:
13-47988897-A-ACTCCTCCT
gnomAD v4:
13-47988897-A-ACTCCTCCT
MyVariant Identifiers:
chr13:g.48563032_48563033insCTCCTCCT (hg19)
chr13:g.47988897_47988898insCTCCTCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.47988898_47988905dup , CM000675.2:g.47988898_47988905dup | GRCh38 |
| NC_000013.10:g.48563033_48563040dup , CM000675.1:g.48563033_48563040dup | GRCh37 |
| NC_000013.9:g.47461034_47461041dup | NCBI36 |
| NG_008241.1:g.17423_17430dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642944.1:c.174_181dup | ENSP00000495674.1:p.Val61GlufsTer4 | |
| ENST00000643023.1:c.348_355dup | ENSP00000495664.1:p.Val119GlufsTer4 | |
| ENST00000643584.1:c.348_355dup | ENSP00000494987.1:p.Val119GlufsTer4 | |
| ENST00000644338.1:c.348_355dup | ENSP00000494723.1:p.Val119GlufsTer4 | |
| ENST00000646602.1:c.348_355dup | ENSP00000495250.1:p.Val119GlufsTer4 | |
| ENST00000646804.1:c.174_181dup | ENSP00000493977.1:p.Val61GlufsTer4 | |
| ENST00000646932.1:c.348_355dup MANE Select | ENSP00000494360.1:p.Val119GlufsTer4 | |
| ENST00000647361.1:c.*141_*148dup | ENSP00000494607.1:n.*141_*148dup | |
| ENST00000378654.8:c.348_355dup | ENSP00000367923.3:p.Val119GlufsTer4 | |
| ENST00000433022.1:c.90+12275_90+12282dup | ENSP00000415091.1:n.90+12275_90+12282dup | |
| ENST00000434484.5:c.138_145dup | ENSP00000392771.1:p.Val49GlufsTer4 | |
| ENST00000470760.2:c.348_355dup | ENSP00000488974.1:p.Val119GlufsTer4 | |
| ENST00000497202.6:c.442_449dup | ENSP00000489175.1:n.442_449dup | |
| NM_003850.2:c.348_355dup | NP_003841.1:p.Val119GlufsTer4 | |
| XM_011535292.1:c.111_118dup | XP_011533594.1:p.Val40GlufsTer4 | |
| XM_011535293.1:c.-55_-48dup | XP_011533595.1:n.-55_-48dup | |
| XR_941688.1:n.392_399dup | ||
| NM_003850.3:c.348_355dup MANE Select | NP_003841.1:p.Val119GlufsTer4 |