Linked Data
ClinVar Variation Id:
39050
dbSNP Id:
rs281864952
ExAC:
12:102183804 AAAC / A
gnomAD v2:
12-102183804-AAAC-A
gnomAD v3:
12-101790026-AAAC-A
gnomAD v4:
12-101790026-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101790030_101790032del , CM000674.2:g.101790030_101790032del | GRCh38 |
| NC_000012.11:g.102183808_102183810del , CM000674.1:g.102183808_102183810del | GRCh37 |
| NC_000012.10:g.100707939_100707941del | NCBI36 |
| NG_021243.1:g.45839_45841del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.232_234del MANE Select | ENSP00000299314.7:p.Val78del | |
| ENST00000299314.11:c.232_234del | ENSP00000299314.7:p.Val78del | |
| ENST00000549940.5:c.232_234del | ENSP00000449150.1:p.Val78del | |
| ENST00000550352.1:n.26_28del | ||
| NM_024312.4:c.232_234del | NP_077288.2:p.Val78del | |
| XM_006719593.2:c.232_234del | XP_006719656.1:p.Val78del | |
| XM_011538731.1:c.151_153del | XP_011537033.1:p.Val51del | |
| XM_006719593.3:c.232_234del | XP_006719656.1:p.Val78del | |
| XM_011538731.2:c.151_153del | XP_011537033.1:p.Val51del | |
| XM_017019961.1:c.16_18del | XP_016875450.1:p.Val6del | |
| XM_017019962.2:c.-1119_-1117del | XP_016875451.1:n.-1119_-1117del | |
| NM_024312.5:c.232_234del MANE Select | NP_077288.2:p.Val78del |