Linked Data
dbSNP Id:
rs1444202915
gnomAD v2:
15-78894382-T-TAGTC
gnomAD v4:
15-78602040-T-TAGTC
MyVariant Identifiers:
chr15:g.78894382_78894383insAGTC (hg19)
chr15:g.78602040_78602041insAGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602041_78602044dup , CM000677.2:g.78602041_78602044dup | GRCh38 |
| NC_000015.9:g.78894383_78894386dup , CM000677.1:g.78894383_78894386dup | GRCh37 |
| NC_000015.8:g.76681438_76681441dup | NCBI36 |
| NG_016143.1:g.24252_24255dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.598_601dup MANE Select | ENSP00000315602.5:p.Tyr201Ter | |
| ENST00000326828.5:c.598_601dup | ENSP00000315602.5:p.Tyr201Ter | |
| ENST00000348639.7:c.598_601dup | ENSP00000267951.4:p.Tyr201Ter | |
| ENST00000558903.1:n.305_308dup | ||
| ENST00000559658.5:c.598_601dup | ENSP00000452896.1:p.Tyr201Ter | |
| NM_000743.4:c.598_601dup | NP_000734.2:p.Tyr201Ter | |
| NM_001166694.1:c.598_601dup | NP_001160166.1:p.Tyr201Ter | |
| NR_046313.1:n.1099_1102dup | ||
| XM_006720382.1:c.397_400dup | XP_006720445.1:p.Tyr134Ter | |
| XM_011521173.1:c.517_520dup | XP_011519475.1:p.Tyr174Ter | |
| XM_006720382.3:c.397_400dup | XP_006720445.1:p.Tyr134Ter | |
| NM_000743.5:c.598_601dup MANE Select | NP_000734.2:p.Tyr201Ter | |
| NM_001166694.2:c.598_601dup | NP_001160166.1:p.Tyr201Ter | |
| NR_046313.2:n.800_803dup |