Linked Data
ClinVar Variation Id:
2570637
ClinVar RCV Id:
RCV003307396
gnomAD v4:
19-1401418-C-CA
MyVariant Identifiers:
chr19:g.1401417_1401418insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401419dup , CM000681.2:g.1401419dup | GRCh38 |
| NC_000019.9:g.1401418dup , CM000681.1:g.1401418dup | GRCh37 |
| NC_000019.8:g.1352418dup | NCBI36 |
| NG_009785.1:g.5135dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252288.8:c.58dup MANE Select | ENSP00000252288.1:p.Trp20LeufsTer? | |
| ENST00000447102.8:c.58dup | ENSP00000403536.2:p.Trp20LeufsTer? | |
| ENST00000640762.1:c.58dup | ENSP00000492031.1:p.Trp20LeufsTer? | |
| ENST00000252288.6:c.58dup | ENSP00000252288.1:p.Trp20LeufsTer? | |
| ENST00000447102.7:c.58dup | ENSP00000403536.2:p.Trp20LeufsTer? | |
| NM_000156.5:c.58dup | NP_000147.1:p.Trp20LeufsTer? | |
| NM_138924.2:c.58dup | NP_620279.1:p.Trp20LeufsTer? | |
| NM_000156.6:c.58dup MANE Select | NP_000147.1:p.Trp20LeufsTer? | |
| NM_138924.3:c.58dup | NP_620279.1:p.Trp20LeufsTer? |