Linked Data
dbSNP Id:
rs1351646599
gnomAD v2:
5-110454624-CCTTAT-C
gnomAD v3:
5-111118926-CCTTAT-C
gnomAD v4:
5-111118926-CCTTAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111118930_111118934del , CM000667.2:g.111118930_111118934del | GRCh38 |
| NC_000005.9:g.110454628_110454632del , CM000667.1:g.110454628_110454632del | GRCh37 |
| NC_000005.8:g.110482527_110482531del | NCBI36 |
| NG_008979.1:g.31759_31763del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000513710.4:c.1797-83_1797-79del MANE Select | ENSP00000424628.3:n.1797-83_1797-79del | |
| ENST00000506538.6:c.1965-83_1965-79del | ENSP00000423067.2:n.1965-83_1965-79del | |
| ENST00000513710.3:c.1797-83_1797-79del | ENSP00000424628.3:n.1797-83_1797-79del | |
| ENST00000612402.4:c.1965-83_1965-79del | ENSP00000479950.1:n.1965-83_1965-79del | |
| NM_139281.2:c.1965-83_1965-79del | NP_644810.1:n.1965-83_1965-79del | |
| XM_011543163.1:c.1965-83_1965-79del | XP_011541465.1:n.1965-83_1965-79del | |
| NM_139281.3:c.1797-83_1797-79del MANE Select | NP_644810.2:n.1797-83_1797-79del |