Linked Data
ClinVar Variation Id:
2836018
ClinVar RCV Id:
RCV003689861
dbSNP Id:
rs1321932022
gnomAD v4:
16-56870725-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56870725_56870726insA , CM000678.2:g.56870725_56870726insA | GRCh38 |
| NC_000016.9:g.56904637_56904638insA , CM000678.1:g.56904637_56904638insA | GRCh37 |
| NC_000016.8:g.55462138_55462139insA | NCBI36 |
| NG_009386.1:g.10519_10520insA | |
| NG_009386.2:g.10519_10520insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.841_842insA MANE Select | ENSP00000456149.2:p.Trp281Ter | |
| ENST00000262502.5:c.838_839insA | ENSP00000262502.5:p.Trp280Ter | |
| ENST00000438926.6:c.841_842insA | ENSP00000402152.2:p.Trp281Ter | |
| ENST00000563236.5:c.841_842insA | ENSP00000456149.1:p.Trp281Ter | |
| ENST00000566786.5:c.838_839insA | ENSP00000457552.1:p.Trp280Ter | |
| NM_000339.2:c.841_842insA | NP_000330.2:p.Trp281Ter | |
| NM_001126107.1:c.838_839insA | NP_001119579.1:p.Trp280Ter | |
| NM_001126108.1:c.841_842insA | NP_001119580.1:p.Trp281Ter | |
| XM_005256119.1:c.838_839insA | XP_005256176.1:p.Trp280Ter | |
| XM_005256119.2:c.838_839insA | XP_005256176.1:p.Trp280Ter | |
| NM_000339.3:c.841_842insA | NP_000330.3:p.Trp281Ter | |
| NM_001126107.2:c.838_839insA | NP_001119579.2:p.Trp280Ter | |
| NM_001126108.2:c.841_842insA MANE Select | NP_001119580.2:p.Trp281Ter |