Linked Data
ClinVar Variation Id:
371118
dbSNP Id:
rs1057517022
gnomAD v3:
19-35844418-CG-C
gnomAD v4:
19-35844418-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35844420del , CM000681.2:g.35844420del | GRCh38 |
| NC_000019.9:g.36335322del , CM000681.1:g.36335322del | GRCh37 |
| NC_000019.8:g.41027162del | NCBI36 |
| NG_013356.2:g.29869del , LRG_693:g.29869del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.1971del MANE Select | ENSP00000368190.4:p.Ala658ArgfsTer? | |
| ENST00000353632.6:c.1971del | ENSP00000343634.5:p.Ala658ArgfsTer? | |
| ENST00000378910.9:c.1971del | ENSP00000368190.4:p.Ala658ArgfsTer? | |
| ENST00000585400.1:n.153del | ||
| NM_004646.3:c.1971del , LRG_693t1:c.1971del | NP_004637.1:p.Ala658ArgfsTer? | |
| NM_004646.4:c.1971del MANE Select | NP_004637.1:p.Ala658ArgfsTer? |