Linked Data
ClinVar Variation Id:
371758
ClinVar RCV Id:
RCV001850977
dbSNP Id:
rs1057517511
gnomAD v2:
5-149360692-A-AGTTAT
gnomAD v4:
5-149981129-A-AGTTAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981130_149981134dup , CM000667.2:g.149981130_149981134dup | GRCh38 |
| NC_000005.9:g.149360693_149360697dup , CM000667.1:g.149360693_149360697dup | GRCh37 |
| NC_000005.8:g.149340886_149340890dup | NCBI36 |
| NG_007147.2:g.22248_22252dup , LRG_684:g.22248_22252dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.1537_1541dup MANE Select | ENSP00000286298.4:p.Ile514MetfsTer14 | |
| ENST00000286298.4:c.1537_1541dup | ENSP00000286298.4:p.Ile514MetfsTer14 | |
| ENST00000503336.1:c.372+2779_372+2783dup | ENSP00000426053.1:n.372+2779_372+2783dup | |
| NM_000112.3:c.1537_1541dup , LRG_684t1:c.1537_1541dup | NP_000103.2:p.Ile514MetfsTer14 | |
| XM_017009191.2:c.1537_1541dup | XP_016864680.1:p.Ile514MetfsTer14 | |
| NM_000112.4:c.1537_1541dup MANE Select | NP_000103.2:p.Ile514MetfsTer14 |