dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126137_42126139dup , CM000684.2:g.42126137_42126139dup | GRCh38 |
| NC_000022.10:g.42522139_42522141dup , CM000684.1:g.42522139_42522141dup | GRCh37 |
| NC_000022.9:g.40852083_40852085dup | NCBI36 |
| NG_008376.3:g.8853_8855dup | |
| NG_008376.4:g.9672_9674dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1453-186_1453-184dup | XP_011528268.1:n.1453-186_1453-184dup | |
| XM_011529967.1:c.1453-186_1453-184dup | XP_011528269.1:n.1453-186_1453-184dup | |
| XM_011529968.1:c.1453-212_1453-210dup | XP_011528270.1:n.1453-212_1453-210dup | |
| XM_011529969.1:c.1309-186_1309-184dup | XP_011528271.1:n.1309-186_1309-184dup | |
| XM_011529970.1:c.1300-186_1300-184dup | XP_011528272.1:n.1300-186_1300-184dup |