Linked Data
ClinVar Variation Id:
371730
dbSNP Id:
rs1057517493
gnomAD v2:
1-53662689-TC-T
gnomAD v3:
1-53197017-TC-T
gnomAD v4:
1-53197017-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53197018del , CM000663.2:g.53197018del | GRCh38 |
| NC_000001.10:g.53662690del , CM000663.1:g.53662690del | GRCh37 |
| NC_000001.9:g.53435278del | NCBI36 |
| NG_008035.1:g.5590del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371486.4:c.75del MANE Select | ENSP00000360541.3:p.Ser26AlafsTer? | |
| ENST00000468572.2:n.160del | ||
| ENST00000635862.1:c.75del | ENSP00000490867.1:p.Ser26AlafsTer? | |
| ENST00000635888.1:c.75del | ENSP00000490042.1:p.Ser26AlafsTer? | |
| ENST00000636239.1:c.75del | ENSP00000490066.1:p.Ser26AlafsTer? | |
| ENST00000636867.1:c.75del | ENSP00000489631.1:p.Ser26AlafsTer? | |
| ENST00000636891.1:c.75del | ENSP00000490399.1:p.Ser26AlafsTer? | |
| ENST00000636935.1:c.75del | ENSP00000489757.1:p.Ser26AlafsTer? | |
| ENST00000637252.1:c.75del | ENSP00000490492.1:p.Ser26AlafsTer? | |
| ENST00000638135.1:c.75del | ENSP00000489756.1:p.Ser26AlafsTer? | |
| ENST00000371486.3:c.75del | ENSP00000360541.3:p.Ser26AlafsTer? | |
| ENST00000468572.1:n.160del | ||
| NM_000098.2:c.75del | NP_000089.1:p.Ser26AlafsTer? | |
| XM_005270484.1:c.75del | XP_005270541.1:p.Ser26AlafsTer? | |
| NM_001330589.1:c.75del | NP_001317518.1:p.Ser26AlafsTer? | |
| NM_000098.3:c.75del MANE Select | NP_000089.1:p.Ser26AlafsTer? | |
| NM_001330589.2:c.75del | NP_001317518.1:p.Ser26AlafsTer? |