Linked Data
dbSNP Id:
rs1190827476
gnomAD v2:
15-45003277-CCTT-C
gnomAD v3:
15-44711079-CCTT-C
gnomAD v4:
15-44711079-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711082_44711084del , CM000677.2:g.44711082_44711084del | GRCh38 |
| NC_000015.9:g.45003280_45003282del , CM000677.1:g.45003280_45003282del | GRCh37 |
| NC_000015.8:g.42790572_42790574del | NCBI36 |
| NG_012920.1:g.4596_4598del | |
| NG_012920.2:g.4606_4608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-316_-314del MANE Select | ENSP00000508024.1:n.-316_-314del | |
| ENST00000558573.1:n.235_237del | ||
| XM_011521338.1:c.-316_-314del | XP_011519640.1:n.-316_-314del | |
| XM_011521339.1:c.-197_-195del | XP_011519641.1:n.-197_-195del | |
| XM_011521340.1:c.-138_-136del | XP_011519642.1:n.-138_-136del | |
| XM_011521343.1:c.-400_-398del | XP_011519645.1:n.-400_-398del | |
| XM_011521345.1:c.-371_-369del | XP_011519647.1:n.-371_-369del | |
| XM_011521338.3:c.-316_-314del | XP_011519640.1:n.-316_-314del | |
| XM_011521339.3:c.-197_-195del | XP_011519641.1:n.-197_-195del | |
| XM_011521340.3:c.-138_-136del | XP_011519642.1:n.-138_-136del | |
| XM_011521343.3:c.-400_-398del | XP_011519645.1:n.-400_-398del | |
| XM_011521345.3:c.-371_-369del | XP_011519647.1:n.-371_-369del | |
| NM_001387260.1:c.-76+250_-76+252del | NP_001374189.1:n.-76+250_-76+252del | |
| NM_001387261.1:c.-138_-136del | NP_001374190.1:n.-138_-136del | |
| NM_001387262.1:c.-406_-404del | NP_001374191.1:n.-406_-404del | |
| NM_001387263.1:c.-316_-314del MANE Select | NP_001374192.1:n.-316_-314del |