Linked Data
dbSNP Id:
rs146751027
MyVariant Identifiers:
chr19:g.11342892_11342893insCCC (hg19)
chr19:g.11232216_11232217insCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11232217_11232219dup , CM000681.2:g.11232217_11232219dup | GRCh38 |
| NC_000019.9:g.11342893_11342895dup , CM000681.1:g.11342893_11342895dup | GRCh37 |
| NC_000019.8:g.11203893_11203895dup | NCBI36 |
| NG_031953.1:g.35274_35276dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587656.6:c.2789_2791dup | ENSP00000468638.2:p.Arg930_Ala931insGly | |
| ENST00000294618.12:c.2718+984_2718+986dup MANE Select | ENSP00000294618.6:n.2718+984_2718+986dup | |
| ENST00000294618.11:c.2718+984_2718+986dup | ENSP00000294618.6:n.2718+984_2718+986dup | |
| ENST00000585904.1:c.392_394dup | ENSP00000465767.1:p.Arg131_Ala132insGly | |
| ENST00000587656.5:c.549_551dup | ||
| ENST00000590680.5:c.1061+984_1061+986dup | ||
| NM_020812.3:c.2718+984_2718+986dup | NP_065863.2:n.2718+984_2718+986dup | |
| XM_005260000.2:c.2789_2791dup | XP_005260057.1:p.Arg930_Ala931insGly | |
| XM_005260001.2:c.2789_2791dup | XP_005260058.1:p.Arg930_Ala931insGly | |
| XM_006722804.2:c.54+820_54+822dup | XP_006722867.1:n.54+820_54+822dup | |
| XM_011528150.1:c.2822_2824dup | XP_011526452.1:p.Arg941_Ala942insGly | |
| XM_011528151.1:c.2751+984_2751+986dup | XP_011526453.1:n.2751+984_2751+986dup | |
| XM_011528152.1:c.2751+984_2751+986dup | XP_011526454.1:n.2751+984_2751+986dup | |
| XM_011528153.1:c.2822_2824dup | XP_011526455.1:p.Arg941_Ala942insGly | |
| XR_936195.1:n.2883_2885dup | ||
| XR_936196.1:n.2812+984_2812+986dup | ||
| XR_936197.1:n.2883_2885dup | ||
| XR_936198.1:n.2812+984_2812+986dup | ||
| XM_006722804.3:c.54+820_54+822dup | XP_006722867.1:n.54+820_54+822dup | |
| NM_001367830.1:c.2789_2791dup | NP_001354759.1:p.Arg930_Ala931insGly | |
| NM_020812.4:c.2718+984_2718+986dup MANE Select | NP_065863.2:n.2718+984_2718+986dup |