Linked Data
dbSNP Id:
rs764221133
gnomAD v2:
22-19960506-C-CTGGACACTGTGGACAGTGG
gnomAD v3:
22-19972983-C-CTGGACACTGTGGACAGTGG
gnomAD v4:
22-19972983-C-CTGGACACTGTGGACAGTGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19972984_19972985insGGACACTGTGGACAGTGGT , CM000684.2:g.19972984_19972985insGGACACTGTGGACAGTGGT | GRCh38 |
| NC_000022.10:g.19960507_19960508insGGACACTGTGGACAGTGGT , CM000684.1:g.19960507_19960508insGGACACTGTGGACAGTGGT | GRCh37 |
| NC_000022.9:g.18340507_18340508insGGACACTGTGGACAGTGGT | NCBI36 |
| NG_023326.1:g.48803_48804insCCACTGTCCACAGTGTCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263207.8:c.2491_2492insCCACTGTCCACAGTGTCCA MANE Select | ENSP00000263207.3:p.Ser831ThrfsTer36 | |
| ENST00000263207.7:c.2491_2492insCCACTGTCCACAGTGTCCA | ENSP00000263207.3:p.Ser831ThrfsTer36 | |
| ENST00000401994.5:c.2302_2303insCCACTGTCCACAGTGTCCA | ENSP00000384341.1:p.Ser768ThrfsTer36 | |
| ENST00000406259.1:c.2473_2474insCCACTGTCCACAGTGTCCA | ENSP00000385444.1:p.Ser825ThrfsTer36 | |
| ENST00000406522.5:c.2284_2285insCCACTGTCCACAGTGTCCA | ENSP00000384732.1:p.Ser762ThrfsTer36 | |
| ENST00000495096.5:n.1413_1414insCCACTGTCCACAGTGTCCA | ||
| NM_001670.2:c.2491_2492insCCACTGTCCACAGTGTCCA | NP_001661.1:p.Ser831ThrfsTer36 | |
| XM_005261242.1:c.2473_2474insCCACTGTCCACAGTGTCCA | XP_005261299.1:p.Ser825ThrfsTer36 | |
| XM_005261243.3:c.2473_2474insCCACTGTCCACAGTGTCCA | XP_005261300.1:p.Ser825ThrfsTer36 | |
| XM_005261244.3:c.2473_2474insCCACTGTCCACAGTGTCCA | XP_005261301.1:p.Ser825ThrfsTer36 | |
| XM_006724243.1:c.2491_2492insCCACTGTCCACAGTGTCCA | XP_006724306.1:p.Ser831ThrfsTer36 | |
| XM_006724245.2:c.2491_2492insCCACTGTCCACAGTGTCCA | XP_006724308.1:p.Ser831ThrfsTer36 | |
| XM_006724246.2:c.2245_2246insCCACTGTCCACAGTGTCCA | XP_006724309.1:p.Ser749ThrfsTer36 | |
| XM_006724247.2:c.2302_2303insCCACTGTCCACAGTGTCCA | XP_006724310.1:p.Ser768ThrfsTer36 | |
| XM_006724248.2:c.2284_2285insCCACTGTCCACAGTGTCCA | XP_006724311.1:p.Ser762ThrfsTer36 | |
| XM_011530179.1:c.2458_2459insCCACTGTCCACAGTGTCCA | XP_011528481.1:p.Ser820ThrfsTer36 | |
| XM_011530180.1:c.2491_2492insCCACTGTCCACAGTGTCCA | XP_011528482.1:p.Ser831ThrfsTer36 | |
| XM_011530182.1:c.1057_1058insCCACTGTCCACAGTGTCCA | XP_011528484.1:p.Ser353ThrfsTer36 | |
| XM_011530183.1:c.1039_1040insCCACTGTCCACAGTGTCCA | XP_011528485.1:p.Ser347ThrfsTer36 | |
| XR_937863.1:n.2578_2579insCCACTGTCCACAGTGTCCA | ||
| XR_937864.1:n.2578_2579insCCACTGTCCACAGTGTCCA | ||
| XM_005261242.3:c.2473_2474insCCACTGTCCACAGTGTCCA | XP_005261299.1:p.Ser825ThrfsTer36 | |
| XM_005261243.4:c.2473_2474insCCACTGTCCACAGTGTCCA | XP_005261300.1:p.Ser825ThrfsTer36 | |
| XM_005261244.4:c.2473_2474insCCACTGTCCACAGTGTCCA | XP_005261301.1:p.Ser825ThrfsTer36 | |
| XM_006724243.3:c.2491_2492insCCACTGTCCACAGTGTCCA | XP_006724306.1:p.Ser831ThrfsTer36 | |
| XM_006724245.3:c.2491_2492insCCACTGTCCACAGTGTCCA | XP_006724308.1:p.Ser831ThrfsTer36 | |
| XM_006724246.4:c.2245_2246insCCACTGTCCACAGTGTCCA | XP_006724309.1:p.Ser749ThrfsTer36 | |
| XM_006724247.4:c.2302_2303insCCACTGTCCACAGTGTCCA | XP_006724310.1:p.Ser768ThrfsTer36 | |
| XM_006724248.4:c.2284_2285insCCACTGTCCACAGTGTCCA | XP_006724311.1:p.Ser762ThrfsTer36 | |
| XM_011530179.3:c.2458_2459insCCACTGTCCACAGTGTCCA | XP_011528481.1:p.Ser820ThrfsTer36 | |
| XM_011530182.3:c.1057_1058insCCACTGTCCACAGTGTCCA | XP_011528484.1:p.Ser353ThrfsTer36 | |
| XM_011530183.3:c.1039_1040insCCACTGTCCACAGTGTCCA | XP_011528485.1:p.Ser347ThrfsTer36 | |
| XM_024452249.1:c.2245_2246insCCACTGTCCACAGTGTCCA | XP_024308017.1:p.Ser749ThrfsTer36 | |
| XR_937863.2:n.2578_2579insCCACTGTCCACAGTGTCCA | ||
| NM_001670.3:c.2491_2492insCCACTGTCCACAGTGTCCA MANE Select | NP_001661.1:p.Ser831ThrfsTer36 |