Linked Data
ClinVar Variation Id:
550569
ClinVar RCV Id:
RCV000665347
dbSNP Id:
rs1554095123
MyVariant Identifiers:
chr5:g.149977905_149977910del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977905_149977910del , CM000667.2:g.149977905_149977910del | GRCh38 |
| NC_000005.9:g.149357468_149357473del , CM000667.1:g.149357468_149357473del | GRCh37 |
| NC_000005.8:g.149337661_149337666del | NCBI36 |
| NG_007147.2:g.19023_19028del , LRG_684:g.19023_19028del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.485_490del | ||
| ENST00000286298.5:c.253_258del MANE Select | ENSP00000286298.4:p.Ala85_Lys86del | |
| ENST00000286298.4:c.253_258del | ENSP00000286298.4:p.Ala85_Lys86del | |
| NM_000112.3:c.253_258del , LRG_684t1:c.253_258del | NP_000103.2:p.Ala85_Lys86del | |
| XM_017009191.2:c.253_258del | XP_016864680.1:p.Ala85_Lys86del | |
| NM_000112.4:c.253_258del MANE Select | NP_000103.2:p.Ala85_Lys86del |