Linked Data
ClinVar Variation Id:
371627
ClinVar RCV Id:
RCV000411375
dbSNP Id:
rs1057517421
gnomAD v2:
9-104189883-CT-C
gnomAD v4:
9-101427601-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427604del , CM000671.2:g.101427604del | GRCh38 |
| NC_000009.11:g.104189886del , CM000671.1:g.104189886del | GRCh37 |
| NC_000009.10:g.103229707del | NCBI36 |
| NG_012387.1:g.13179del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.420del MANE Select | ENSP00000497767.1:p.Asp141MetfsTer12 | |
| ENST00000648064.1:c.420del | ENSP00000497990.1:p.Asp141MetfsTer12 | |
| ENST00000648758.1:c.420del | ENSP00000497731.1:p.Asp141MetfsTer12 | |
| ENST00000649902.1:c.420del | ENSP00000497216.1:p.Asp141MetfsTer12 | |
| ENST00000374855.8:c.420del | ENSP00000363988.4:p.Asp141MetfsTer12 | |
| ENST00000468981.3:n.68-964del | ||
| ENST00000616752.1:c.420del | ENSP00000481363.1:p.Asp141MetfsTer12 | |
| NM_000035.3:c.420del | NP_000026.2:p.Asp141MetfsTer12 | |
| NM_000035.4:c.420del MANE Select | NP_000026.2:p.Asp141MetfsTer12 |