Linked Data
dbSNP Id:
rs1294088499
gnomAD v2:
22-51135978-ATT-A
gnomAD v3:
22-50697550-ATT-A
gnomAD v4:
22-50697550-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697551_50697552del , CM000684.2:g.50697551_50697552del | GRCh38 |
| NC_000022.10:g.51135979_51135980del , CM000684.1:g.51135979_51135980del | GRCh37 |
| NC_000022.9:g.49482845_49482846del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-13_948-12del | ENSP00000489147.2:n.948-13_948-12del | |
| ENST00000414786.7:n.1532-13_1532-12del | ||
| ENST00000673971.2:c.1305-13_1305-12del | ENSP00000501192.1:n.1305-13_1305-12del | |
| ENST00000262795.6:c.948-13_948-12del | ENSP00000489147.2:n.948-13_948-12del | |
| ENST00000673971.1:c.1305-13_1305-12del | ENSP00000501192.1:n.1305-13_1305-12del | |
| ENST00000262795.5:c.1345-14_1345-13del | ENSP00000489147.1:n.1345-14_1345-13del | |
| ENST00000414786.6:n.1532-13_1532-12del | ||
| ENST00000445220.5:c.1326-13_1326-12del | ENSP00000489407.1:n.1326-13_1326-12del |