Linked Data
dbSNP Id:
rs1562500856
gnomAD v2:
6-160857958-A-ACATC
gnomAD v4:
6-160436926-A-ACATC
MyVariant Identifiers:
chr6:g.160857958_160857959insCATC (hg19)
chr6:g.160436926_160436927insCATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160436928_160436931dup , CM000668.2:g.160436928_160436931dup | GRCh38 |
| NC_000006.11:g.160857960_160857963dup , CM000668.1:g.160857960_160857963dup | GRCh37 |
| NC_000006.10:g.160777950_160777953dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275300.3:c.1073+51_1073+54dup MANE Select | ENSP00000275300.2:n.1073+51_1073+54dup | |
| ENST00000275300.2:c.1073+51_1073+54dup | ENSP00000275300.2:n.1073+51_1073+54dup | |
| NM_021977.3:c.1073+51_1073+54dup | NP_068812.1:n.1073+51_1073+54dup | |
| XM_005267106.3:c.680+51_680+54dup | XP_005267163.1:n.680+51_680+54dup | |
| XM_011536075.1:c.617+51_617+54dup | XP_011534377.1:n.617+51_617+54dup | |
| XM_011536076.1:c.617+51_617+54dup | XP_011534378.1:n.617+51_617+54dup | |
| XM_011536077.1:c.617+51_617+54dup | XP_011534379.1:n.617+51_617+54dup | |
| XR_245546.1:n.1018-5833_1018-5830dup | ||
| XM_005267106.5:c.680+51_680+54dup | XP_005267163.1:n.680+51_680+54dup | |
| XM_011536075.2:c.617+51_617+54dup | XP_011534377.1:n.617+51_617+54dup | |
| XM_011536076.3:c.617+51_617+54dup | XP_011534378.1:n.617+51_617+54dup | |
| XM_017011203.2:c.617+51_617+54dup | XP_016866692.1:n.617+51_617+54dup | |
| XR_001743588.1:n.1018-69_1018-66dup | ||
| XR_001743589.1:n.1018-5833_1018-5830dup | ||
| NM_021977.4:c.1073+51_1073+54dup MANE Select | NP_068812.1:n.1073+51_1073+54dup |