Linked Data
ClinVar Variation Id:
371762
dbSNP Id:
rs1057517515
gnomAD v3:
1-53210717-C-CA
gnomAD v4:
1-53210717-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210720dup , CM000663.2:g.53210720dup | GRCh38 |
| NC_000001.10:g.53676392dup , CM000663.1:g.53676392dup | GRCh37 |
| NC_000001.9:g.53448980dup | NCBI36 |
| NG_008035.1:g.19292dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371486.4:c.1046dup MANE Select | ENSP00000360541.3:p.Asn349LysfsTer5 | |
| ENST00000635862.1:c.1046dup | ENSP00000490867.1:p.Asn349LysfsTer5 | |
| ENST00000635888.1:c.*1032dup | ENSP00000490042.1:n.*1032dup | |
| ENST00000636239.1:c.*693dup | ENSP00000490066.1:n.*693dup | |
| ENST00000636867.1:c.1046dup | ENSP00000489631.1:p.Asn349LysfsTer5 | |
| ENST00000636891.1:c.1046dup | ENSP00000490399.1:p.Asn349LysfsTer5 | |
| ENST00000636935.1:c.341-2544dup | ENSP00000489757.1:n.341-2544dup | |
| ENST00000637252.1:c.1046dup | ENSP00000490492.1:p.Asn349LysfsTer5 | |
| ENST00000637726.1:n.3246dup | ||
| ENST00000638135.1:c.*693dup | ENSP00000489756.1:n.*693dup | |
| ENST00000371486.3:c.1046dup | ENSP00000360541.3:p.Asn349LysfsTer5 | |
| NM_000098.2:c.1046dup | NP_000089.1:p.Asn349LysfsTer5 | |
| XM_005270484.1:c.1046dup | XP_005270541.1:p.Asn349LysfsTer5 | |
| NM_001330589.1:c.1046dup | NP_001317518.1:p.Asn349LysfsTer5 | |
| NM_000098.3:c.1046dup MANE Select | NP_000089.1:p.Asn349LysfsTer5 | |
| NM_001330589.2:c.1046dup | NP_001317518.1:p.Asn349LysfsTer5 |