Linked Data
dbSNP Id:
rs141956691
gnomAD v2:
2-96916337-TAAC-T
gnomAD v3:
2-96250599-TAAC-T
gnomAD v4:
2-96250599-TAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96250608_96250610del , CM000664.2:g.96250608_96250610del | GRCh38 |
| NC_000002.11:g.96916346_96916348del , CM000664.1:g.96916346_96916348del | GRCh37 |
| NC_000002.10:g.96280073_96280075del | NCBI36 |
| NG_027695.1:g.20412_20414del , LRG_528:g.20412_20414del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*3206_*3208del MANE Select | ENSP00000258439.3:n.*3206_*3208del | |
| ENST00000258439.7:c.*3206_*3208del | ENSP00000258439.2:n.*3206_*3208del | |
| NM_001193304.2:c.*3206_*3208del | NP_001180233.1:n.*3206_*3208del | |
| NM_017849.3:c.*3206_*3208del , LRG_528t1:c.*3206_*3208del | NP_060319.1:n.*3206_*3208del | |
| XM_017004450.1:c.*2507_*2509del | XP_016859939.1:n.*2507_*2509del | |
| XM_017004452.1:c.*3206_*3208del | XP_016859941.1:n.*3206_*3208del | |
| NM_001193304.3:c.*3206_*3208del | NP_001180233.1:n.*3206_*3208del | |
| NM_017849.4:c.*3206_*3208del MANE Select | NP_060319.1:n.*3206_*3208del |