Linked Data
dbSNP Id:
rs1298187458
gnomAD v3:
15-48445189-T-TATATATACA
gnomAD v4:
15-48445189-T-TATATATACA
MyVariant Identifiers:
chr15:g.48737386_48737387insATATATACA (hg19)
chr15:g.48445189_48445190insATATATACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445190_48445198dup , CM000677.2:g.48445190_48445198dup | GRCh38 |
| NC_000015.9:g.48737387_48737395dup , CM000677.1:g.48737387_48737395dup | GRCh37 |
| NC_000015.8:g.46524679_46524687dup | NCBI36 |
| NG_008805.2:g.205591_205599dup , LRG_778:g.205591_205599dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+178_5917+186dup | ENSP00000453958.2:n.5917+178_5917+186dup | |
| ENST00000674301.2:c.5917+178_5917+186dup | ENSP00000501333.2:n.5917+178_5917+186dup | |
| ENST00000684448.1:n.4591+178_4591+186dup | ||
| ENST00000316623.10:c.5917+178_5917+186dup MANE Select | ENSP00000325527.5:n.5917+178_5917+186dup | |
| ENST00000674301.1:c.916+178_916+186dup | ENSP00000501333.1:n.916+178_916+186dup | |
| ENST00000316623.9:c.5917+178_5917+186dup | ENSP00000325527.5:n.5917+178_5917+186dup | |
| ENST00000537463.6:c.*1680+178_*1680+186dup | ENSP00000440294.2:n.*1680+178_*1680+186dup | |
| ENST00000559133.5:c.1224+178_1224+186dup | ||
| ENST00000560820.1:n.37+178_37+186dup | ||
| NM_000138.4:c.5917+178_5917+186dup , LRG_778t1:c.5917+178_5917+186dup | NP_000129.3:n.5917+178_5917+186dup | |
| NM_000138.5:c.5917+178_5917+186dup MANE Select | NP_000129.3:n.5917+178_5917+186dup |