Linked Data
dbSNP Id:
rs1198474758
MyVariant Identifiers:
chr1:g.983630_983631del (hg19)
chr1:g.1048251_1048252del (hg38)
chr1:g.1048250_1048251del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048251_1048252del , CM000663.2:g.1048251_1048252del | GRCh38 |
| NC_000001.10:g.983631_983632del , CM000663.1:g.983631_983632del | GRCh37 |
| NC_000001.9:g.973494_973495del | NCBI36 |
| NG_016346.1:g.33129_33130del , LRG_198:g.33129_33130del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3991_3992del MANE Select | ENSP00000368678.2:p.Lys1331AlafsTer3 | |
| ENST00000651234.1:c.3676_3677del | ENSP00000499046.1:p.Lys1226AlafsTer3 | |
| ENST00000652369.1:c.3676_3677del | ENSP00000498543.1:p.Lys1226AlafsTer3 | |
| ENST00000379370.6:c.3991_3992del | ENSP00000368678.2:p.Lys1331AlafsTer3 | |
| ENST00000620552.4:c.3577_3578del | ENSP00000484607.1:p.Lys1193AlafsTer3 | |
| NM_001305275.1:c.3991_3992del | NP_001292204.1:p.Lys1331AlafsTer3 | |
| NM_198576.3:c.3991_3992del | NP_940978.2:p.Lys1331AlafsTer3 | |
| XM_005244749.2:c.3991_3992del | XP_005244806.1:p.Lys1331AlafsTer3 | |
| XM_006710635.2:c.3991_3992del | XP_006710698.1:p.Lys1331AlafsTer3 | |
| XM_011541429.1:c.3991_3992del | XP_011539731.1:p.Lys1331AlafsTer3 | |
| XM_011541430.1:c.3118_3119del | XP_011539732.1:p.Lys1040AlafsTer3 | |
| XM_011541431.1:c.2257_2258del | XP_011539733.1:p.Lys753AlafsTer3 | |
| XR_946650.1:n.4058_4059del | ||
| NM_001364727.1:c.3676_3677del | NP_001351656.1:p.Lys1226AlafsTer3 | |
| XM_005244749.3:c.3991_3992del | XP_005244806.1:p.Lys1331AlafsTer3 | |
| XM_011541429.2:c.3991_3992del | XP_011539731.1:p.Lys1331AlafsTer3 | |
| XR_946650.2:n.4062_4063del | ||
| NM_001305275.2:c.3991_3992del | NP_001292204.1:p.Lys1331AlafsTer3 | |
| NM_198576.4:c.3991_3992del MANE Select | NP_940978.2:p.Lys1331AlafsTer3 | |
| NM_001364727.2:c.3676_3677del | NP_001351656.1:p.Lys1226AlafsTer3 |