Linked Data
dbSNP Id:
rs1450041194
gnomAD v2:
16-68772229-GCCC-G
gnomAD v3:
16-68738326-GCCC-G
gnomAD v4:
16-68738326-GCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68738327_68738329del , CM000678.2:g.68738327_68738329del | GRCh38 |
| NC_000016.9:g.68772230_68772232del , CM000678.1:g.68772230_68772232del | GRCh37 |
| NC_000016.8:g.67329731_67329733del | NCBI36 |
| NG_008021.1:g.6036_6038del , LRG_301:g.6036_6038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.79_81del MANE Select | ENSP00000261769.4:p.Pro27del | |
| ENST00000261769.9:c.79_81del | ENSP00000261769.4:p.Pro27del | |
| ENST00000422392.6:c.79_81del | ENSP00000414946.2:p.Pro27del | |
| ENST00000566510.5:c.79_81del | ENSP00000458139.1:p.Pro27del | |
| ENST00000566612.5:c.79_81del | ENSP00000454782.1:p.Pro27del | |
| ENST00000611625.4:c.79_81del | ENSP00000481063.1:p.Pro27del | |
| ENST00000612417.4:c.79_81del | ENSP00000478360.1:p.Pro27del | |
| ENST00000621016.4:c.79_81del | ENSP00000480664.1:p.Pro27del | |
| NM_004360.3:c.79_81del , LRG_301t1:c.79_81del | NP_004351.1:p.Pro27del | |
| NM_001317184.1:c.79_81del | NP_001304113.1:p.Pro27del | |
| NM_001317185.1:c.-1537_-1535del | NP_001304114.1:n.-1537_-1535del | |
| NM_001317186.1:c.-1741_-1739del | NP_001304115.1:n.-1741_-1739del | |
| NM_004360.4:c.79_81del | NP_004351.1:p.Pro27del | |
| NM_004360.5:c.79_81del MANE Select | NP_004351.1:p.Pro27del | |
| NM_001317184.2:c.79_81del | NP_001304113.1:p.Pro27del | |
| NM_001317185.2:c.-1537_-1535del | NP_001304114.1:n.-1537_-1535del | |
| NM_001317186.2:c.-1741_-1739del | NP_001304115.1:n.-1741_-1739del |