Linked Data
dbSNP Id:
rs1400034151
gnomAD v4:
15-78595981-G-GTTGT
MyVariant Identifiers:
chr15:g.78888323_78888324insTTGT (hg19)
chr15:g.78595981_78595982insTTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78595984_78595987dup , CM000677.2:g.78595984_78595987dup | GRCh38 |
| NC_000015.9:g.78888326_78888329dup , CM000677.1:g.78888326_78888329dup | GRCh37 |
| NC_000015.8:g.76675381_76675384dup | NCBI36 |
| NG_016143.1:g.30311_30314dup | |
| NG_023328.1:g.35465_35468dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326828.6:c.*619_*622dup MANE Select | ENSP00000315602.5:n.*619_*622dup | |
| ENST00000326828.5:c.*619_*622dup | ENSP00000315602.5:n.*619_*622dup | |
| ENST00000348639.7:c.1390-2794_1390-2791dup | ENSP00000267951.4:n.1390-2794_1390-2791du... | |
| ENST00000559002.5:n.193+555_193+558dup | ||
| ENST00000559658.5:c.*64+555_*64+558dup | ENSP00000452896.1:n.*64+555_*64+558dup | |
| NM_000743.4:c.*619_*622dup | NP_000734.2:n.*619_*622dup | |
| NM_001166694.1:c.1390-2794_1390-2791dup | NP_001160166.1:n.1390-2794_1390-2791dup | |
| NR_046313.1:n.2083+555_2083+558dup | ||
| XM_006720382.1:c.*619_*622dup | XP_006720445.1:n.*619_*622dup | |
| XM_011521173.1:c.*619_*622dup | XP_011519475.1:n.*619_*622dup | |
| XM_006720382.3:c.*619_*622dup | XP_006720445.1:n.*619_*622dup | |
| NM_000743.5:c.*619_*622dup MANE Select | NP_000734.2:n.*619_*622dup | |
| NM_001166694.2:c.1390-2794_1390-2791dup | NP_001160166.1:n.1390-2794_1390-2791dup | |
| NR_046313.2:n.1784+555_1784+558dup |