Linked Data
ClinVar Variation Id:
488366
ClinVar RCV Id:
RCV000578186
dbSNP Id:
rs1554597952
PubMed:
PMID:29300383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60823847del , CM000670.2:g.60823847del | GRCh38 |
| NC_000008.10:g.61736406del , CM000670.1:g.61736406del | GRCh37 |
| NC_000008.9:g.61898960del | NCBI36 |
| NG_007009.1:g.150068del , LRG_176:g.150068del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695853.1:c.3209del | ENSP00000512218.1:p.Val1070GlyfsTer2 | |
| ENST00000423902.7:c.3209del MANE Select | ENSP00000392028.1:p.Val1070GlyfsTer2 | |
| ENST00000423902.6:c.3209del | ENSP00000392028.1:p.Val1070GlyfsTer2 | |
| ENST00000524602.5:c.1717-38382del | ENSP00000437061.1:n.1717-38382del | |
| ENST00000525508.1:c.3209del | ENSP00000436027.1:p.Val1070GlyfsTer2 | |
| NM_001316690.1:c.1717-38382del | NP_001303619.1:n.1717-38382del | |
| NM_017780.3:c.3209del | NP_060250.2:p.Val1070GlyfsTer2 | |
| XM_011517553.1:c.3209del | XP_011515855.1:p.Val1070GlyfsTer2 | |
| XM_011517554.1:c.3209del | XP_011515856.1:p.Val1070GlyfsTer2 | |
| XM_011517555.1:c.3209del | XP_011515857.1:p.Val1070GlyfsTer2 | |
| XM_011517556.1:c.3209del | XP_011515858.1:p.Val1070GlyfsTer2 | |
| XM_011517557.1:c.1196del | XP_011515859.1:p.Val399GlyfsTer2 | |
| XM_011517558.1:c.746del | XP_011515860.1:p.Val249GlyfsTer2 | |
| XM_011517559.1:c.-47del | XP_011515861.1:n.-47del | |
| XM_011517560.1:c.3209del | XP_011515862.1:p.Val1070GlyfsTer2 | |
| XM_011517553.2:c.3209del | XP_011515855.1:p.Val1070GlyfsTer2 | |
| XM_011517554.3:c.3209del | XP_011515856.1:p.Val1070GlyfsTer2 | |
| XM_011517555.2:c.3209del | XP_011515857.1:p.Val1070GlyfsTer2 | |
| XM_011517560.2:c.3209del | XP_011515862.1:p.Val1070GlyfsTer2 | |
| XM_017013612.1:c.3209del | XP_016869101.1:p.Val1070GlyfsTer2 | |
| XM_017013613.1:c.3209del | XP_016869102.1:p.Val1070GlyfsTer2 | |
| NM_017780.4:c.3209del MANE Select | NP_060250.2:p.Val1070GlyfsTer2 |