Linked Data
dbSNP Id:
rs2083087892
gnomAD v3:
22-50697491-CGGGGCG-C
gnomAD v4:
22-50697491-CGGGGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697492_50697497del , CM000684.2:g.50697492_50697497del | GRCh38 |
| NC_000022.10:g.51135920_51135925del , CM000684.1:g.51135920_51135925del | GRCh37 |
| NC_000022.9:g.49482786_49482791del | NCBI36 |
| NG_008607.2:g.27851_27856del | |
| NG_070230.1:g.33070_33075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-72_948-67del | ENSP00000489147.2:n.948-72_948-67del | |
| ENST00000414786.7:n.1532-72_1532-67del | ||
| ENST00000673971.2:c.1305-72_1305-67del | ENSP00000501192.1:n.1305-72_1305-67del | |
| ENST00000262795.6:c.948-72_948-67del | ENSP00000489147.2:n.948-72_948-67del | |
| ENST00000673971.1:c.1305-72_1305-67del | ENSP00000501192.1:n.1305-72_1305-67del | |
| ENST00000262795.5:c.1345-73_1345-68del | ENSP00000489147.1:n.1345-73_1345-68del | |
| ENST00000414786.6:n.1532-72_1532-67del | ||
| ENST00000445220.5:c.1326-72_1326-67del | ENSP00000489407.1:n.1326-72_1326-67del |