Linked Data
dbSNP Id:
rs1193379278
gnomAD v2:
15-50534745-G-GGAGGACAGC
gnomAD v3:
15-50242548-G-GGAGGACAGC
gnomAD v4:
15-50242548-G-GGAGGACAGC
MyVariant Identifiers:
chr15:g.50534745_50534746insGAGGACAGC (hg19)
chr15:g.50242548_50242549insGAGGACAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242549_50242557dup , CM000677.2:g.50242549_50242557dup | GRCh38 |
| NC_000015.9:g.50534746_50534754dup , CM000677.1:g.50534746_50534754dup | GRCh37 |
| NC_000015.8:g.48322038_48322046dup | NCBI36 |
| NG_027487.1:g.28409_28417dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1692_1700dup MANE Select | ENSP00000267845.3:p.Ser567_Phe568insLeuSerSer | |
| ENST00000267845.7:c.1692_1700dup | ENSP00000267845.3:p.Ser567_Phe568insLeuSerSer | |
| ENST00000543581.5:c.1593_1601dup | ENSP00000440252.1:p.Ser534_Phe535insLeuSerSer | |
| ENST00000559816.1:n.1436_1444dup | ||
| NM_001306146.1:c.1593_1601dup | NP_001293075.1:p.Ser534_Phe535insLeuSerSer | |
| NM_002112.3:c.1692_1700dup | NP_002103.2:p.Ser567_Phe568insLeuSerSer | |
| XM_011521479.1:c.1455_1463dup | XP_011519781.1:p.Ser488_Phe489insLeuSerSer | |
| XM_011521480.1:c.1260_1268dup | XP_011519782.1:p.Ser423_Phe424insLeuSerSer | |
| XM_017022094.1:c.1797_1805dup | XP_016877583.1:p.Ser602_Phe603insLeuSerSer | |
| XM_017022095.1:c.1698_1706dup | XP_016877584.1:p.Ser569_Phe570insLeuSerSer | |
| XM_017022096.1:c.1569_1577dup | XP_016877585.1:p.Ser526_Phe527insLeuSerSer | |
| XM_017022097.1:c.1560_1568dup | XP_016877586.1:p.Ser523_Phe524insLeuSerSer | |
| XM_017022098.1:c.1365_1373dup | XP_016877587.1:p.Ser458_Phe459insLeuSerSer | |
| NM_002112.4:c.1692_1700dup MANE Select | NP_002103.2:p.Ser567_Phe568insLeuSerSer | |
| NM_001306146.2:c.1593_1601dup | NP_001293075.1:p.Ser534_Phe535insLeuSerSer |