Linked Data
ClinVar Variation Id:
523975
ClinVar RCV Id:
RCV000627467
dbSNP Id:
rs1555370456
gnomAD v4:
15-23566472-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23566476_23566477del , CM000677.2:g.23566476_23566477del | GRCh38 |
| NC_000015.9:g.23811623_23811624del , CM000677.1:g.23811623_23811624del | GRCh37 |
| NC_000015.8:g.21362716_21362717del | NCBI36 |
| NG_012875.2:g.6170_6171del | |
| NG_012875.3:g.6170_6171del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314520.6:c.694_695del MANE Select | ENSP00000313881.3:p.Arg232GlufsTer? | |
| ENST00000564592.2:c.306-332_306-331del | ENSP00000455368.1:n.306-332_306-331del | |
| ENST00000647595.1:c.51+643_51+644del | ENSP00000496869.1:n.51+643_51+644del | |
| ENST00000649065.1:c.306-332_306-331del | ENSP00000496859.1:n.306-332_306-331del | |
| ENST00000676568.1:c.694_695del | ENSP00000502884.1:p.Arg232GlufsTer? | |
| ENST00000677119.1:c.305+389_305+390del | ENSP00000503815.1:n.305+389_305+390del | |
| ENST00000677372.1:c.15_16del | ||
| ENST00000678440.1:c.694_695del | ENSP00000503032.1:p.Arg232GlufsTer? | |
| ENST00000679144.1:c.305+389_305+390del | ENSP00000504844.1:n.305+389_305+390del | |
| ENST00000314520.4:c.694_695del | ENSP00000313881.3:p.Arg232GlufsTer? | |
| ENST00000564592.1:c.306-332_306-331del | ENSP00000455368.1:n.306-332_306-331del | |
| ENST00000568252.1:c.305+389_305+390del | ENSP00000456779.1:n.305+389_305+390del | |
| ENST00000568945.2:n.20_21del | ||
| ENST00000570112.1:c.52-332_52-331del | ENSP00000457884.1:n.52-332_52-331del | |
| NM_005664.3:c.694_695del | NP_005655.1:p.Arg232GlufsTer? | |
| NM_005664.4:c.694_695del MANE Select | NP_005655.1:p.Arg232GlufsTer? |