Linked Data
dbSNP Id:
rs1446918952
gnomAD v3:
5-37249393-G-GGGGCGC
gnomAD v4:
5-37249393-G-GGGGCGC
MyVariant Identifiers:
chr5:g.37249495_37249496insGGGCGC (hg19)
chr5:g.37249393_37249394insGGGCGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37249400_37249405dup , CM000667.2:g.37249400_37249405dup | GRCh38 |
| NC_000005.9:g.37249502_37249507dup , CM000667.1:g.37249502_37249507dup | GRCh37 |
| NC_000005.8:g.37285259_37285264dup | NCBI36 |
| NG_032772.1:g.5030_5035dup | |
| NG_032772.2:g.5030_5035dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.6:c.-202_-197dup (CPLANE1) | ENSP00000389014.2:n.-202_-197dup | |
| NM_023073.3:c.-202_-197dup (CPLANE1) | NP_075561.3:n.-202_-197dup | |
| XR_925921.1:n.171+179_171+184dup (CPLANE1-AS1) | ||
| NR_134263.1:n.176+179_176+184dup (CPLANE1-AS1) | ||
| XM_005248345.4:c.-202_-197dup (CPLANE1) | XP_005248402.1:n.-202_-197dup | |
| XM_005248346.4:c.-202_-197dup (CPLANE1) | XP_005248403.1:n.-202_-197dup | |
| XM_005248347.4:c.-202_-197dup (CPLANE1) | XP_005248404.1:n.-202_-197dup | |
| XM_005248349.4:c.-202_-197dup (CPLANE1) | XP_005248406.1:n.-202_-197dup | |
| XM_005248350.4:c.-202_-197dup (CPLANE1) | XP_005248407.1:n.-202_-197dup | |
| XM_011514087.2:c.-202_-197dup (CPLANE1) | XP_011512389.1:n.-202_-197dup | |
| XM_011514088.2:c.-202_-197dup (CPLANE1) | XP_011512390.1:n.-202_-197dup | |
| XM_011514089.2:c.-202_-197dup (CPLANE1) | XP_011512391.1:n.-202_-197dup | |
| XM_011514092.2:c.-202_-197dup (CPLANE1) | XP_011512394.1:n.-202_-197dup | |
| XR_001742208.1:n.23_28dup (CPLANE1) | ||
| XR_002956171.1:n.23_28dup (CPLANE1) | ||
| XR_925644.2:n.23_28dup (CPLANE1) |