Linked Data
ClinVar Variation Id:
554186
dbSNP Id:
rs1554095374
gnomAD v4:
5-149981407-AC-A
MyVariant Identifiers:
chr5:g.149981410del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981410del , CM000667.2:g.149981410del | GRCh38 |
| NC_000005.9:g.149360973del , CM000667.1:g.149360973del | GRCh37 |
| NC_000005.8:g.149341166del | NCBI36 |
| NG_007147.2:g.22528del , LRG_684:g.22528del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1817del MANE Select | ENSP00000286298.4:p.Pro606GlnfsTer3 | |
| ENST00000286298.4:c.1817del | ENSP00000286298.4:p.Pro606GlnfsTer3 | |
| ENST00000503336.1:c.372+3059del | ENSP00000426053.1:n.372+3059del | |
| NM_000112.3:c.1817del , LRG_684t1:c.1817del | NP_000103.2:p.Pro606GlnfsTer3 | |
| XM_017009191.2:c.1817del | XP_016864680.1:p.Pro606GlnfsTer3 | |
| NM_000112.4:c.1817del MANE Select | NP_000103.2:p.Pro606GlnfsTer3 |