Linked Data
gnomAD v4:
22-42126395-C-CCTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126398_42126401dup , CM000684.2:g.42126398_42126401dup | GRCh38 |
| NC_000022.10:g.42522400_42522403dup , CM000684.1:g.42522400_42522403dup | GRCh37 |
| NC_000022.9:g.40852344_40852347dup | NCBI36 |
| NG_008376.3:g.8593_8596dup | |
| NG_008376.4:g.9412_9415dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1452+217_1452+220dup | XP_011528268.1:n.1452+217_1452+220dup | |
| XM_011529967.1:c.1452+217_1452+220dup | XP_011528269.1:n.1452+217_1452+220dup | |
| XM_011529968.1:c.1452+217_1452+220dup | XP_011528270.1:n.1452+217_1452+220dup | |
| XM_011529969.1:c.1308+217_1308+220dup | XP_011528271.1:n.1308+217_1308+220dup | |
| XM_011529970.1:c.1299+217_1299+220dup | XP_011528272.1:n.1299+217_1299+220dup |