Linked Data
ClinVar Variation Id:
627094
ClinVar RCV Id:
RCV000851823
dbSNP Id:
rs1302506624
gnomAD v4:
17-47253911-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47253916dup , CM000679.2:g.47253916dup | GRCh38 |
| NC_000017.10:g.45331282dup , CM000679.1:g.45331282dup | GRCh37 |
| NC_000017.9:g.42686281dup | NCBI36 |
| NG_008332.2:g.5075dup , LRG_481:g.5075dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.55dup | ENSP00000513002.1:p.Ala19GlyfsTer? | |
| ENST00000559488.7:c.55dup MANE Select | ENSP00000452786.2:p.Ala19GlyfsTer? | |
| ENST00000559488.5:c.55dup | ENSP00000452786.1:p.Ala19GlyfsTer? | |
| ENST00000560629.1:c.20dup | ||
| ENST00000571680.1:c.55dup | ENSP00000461626.1:p.Ala19GlyfsTer? | |
| NM_000212.2:c.55dup , LRG_481t1:c.55dup | NP_000203.2:p.Ala19GlyfsTer? | |
| NM_000212.3:c.55dup MANE Select | NP_000203.2:p.Ala19GlyfsTer? |