Linked Data
dbSNP Id:
rs2083088173
gnomAD v2:
22-51135932-G-GT
gnomAD v3:
22-50697504-G-GT
gnomAD v4:
22-50697504-G-GT
MyVariant Identifiers:
chr22:g.51135933_51135934delinsTGC (hg19)
chr22:g.50697505_50697506delinsTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50697504_50697505insT , CM000684.2:g.50697504_50697505insT | GRCh38 |
| NC_000022.10:g.51135932_51135933insT , CM000684.1:g.51135932_51135933insT | GRCh37 |
| NC_000022.9:g.49482798_49482799insT | NCBI36 |
| NG_008607.2:g.27863_27864insT | |
| NG_070230.1:g.33082_33083insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.948-60_948-59insT | ENSP00000489147.2:n.948-60_948-59insT | |
| ENST00000414786.7:n.1532-60_1532-59insT | ||
| ENST00000673971.2:c.1305-60_1305-59insT | ENSP00000501192.1:n.1305-60_1305-59insT | |
| ENST00000262795.6:c.948-60_948-59insT | ENSP00000489147.2:n.948-60_948-59insT | |
| ENST00000673971.1:c.1305-60_1305-59insT | ENSP00000501192.1:n.1305-60_1305-59insT | |
| ENST00000262795.5:c.1345-61_1345-60insT | ENSP00000489147.1:n.1345-61_1345-60insT | |
| ENST00000414786.6:n.1532-60_1532-59insT | ||
| ENST00000445220.5:c.1326-60_1326-59insT | ENSP00000489407.1:n.1326-60_1326-59insT |