Linked Data
ClinVar Variation Id:
1683432
ClinVar RCV Id:
RCV002238704
dbSNP Id:
rs121908077
gnomAD v4:
5-149980602-C-CTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980613_149980615dup , CM000667.2:g.149980613_149980615dup | GRCh38 |
| NC_000005.9:g.149360176_149360178dup , CM000667.1:g.149360176_149360178dup | GRCh37 |
| NC_000005.8:g.149340369_149340371dup | NCBI36 |
| NG_007147.2:g.21731_21733dup , LRG_684:g.21731_21733dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.1020_1022dup MANE Select | ENSP00000286298.4:p.Val341_Ala342insVal | |
| ENST00000286298.4:c.1020_1022dup | ENSP00000286298.4:p.Val341_Ala342insVal | |
| ENST00000503336.1:c.372+2262_372+2264dup | ENSP00000426053.1:n.372+2262_372+2264dup | |
| NM_000112.3:c.1020_1022dup , LRG_684t1:c.1020_1022dup | NP_000103.2:p.Val341_Ala342insVal | |
| XM_017009191.2:c.1020_1022dup | XP_016864680.1:p.Val341_Ala342insVal | |
| NM_000112.4:c.1020_1022dup MANE Select | NP_000103.2:p.Val341_Ala342insVal |