Linked Data
ClinVar Variation Id:
371643
ClinVar RCV Id:
RCV000411501
dbSNP Id:
rs1057517434
gnomAD v4:
8-86726647-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86726651_86726652del , CM000670.2:g.86726651_86726652del | GRCh38 |
| NC_000008.10:g.87738879_87738880del , CM000670.1:g.87738879_87738880del | GRCh37 |
| NC_000008.9:g.87807995_87807996del | NCBI36 |
| NG_016980.1:g.22027_22028del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.220_221del MANE Select | ENSP00000316605.5:p.Ser74GlnfsTer13 | |
| ENST00000681746.1:c.220_221del | ENSP00000505959.1:p.Ser74GlnfsTer13 | |
| ENST00000320005.5:c.220_221del | ENSP00000316605.5:p.Ser74GlnfsTer13 | |
| ENST00000519777.1:n.202_203del | ||
| NM_019098.4:c.220_221del | NP_061971.3:p.Ser74GlnfsTer13 | |
| NM_019098.5:c.220_221del MANE Select | NP_061971.3:p.Ser74GlnfsTer13 |