Linked Data
dbSNP Id:
rs1480232133
gnomAD v2:
15-48737354-C-CACACATATATATATGT
gnomAD v3:
15-48445157-C-CACACATATATATATGT
gnomAD v4:
15-48445157-C-CACACATATATATATGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445158_48445159insCACATATATATATGTA , CM000677.2:g.48445158_48445159insCACATATATATATGTA | GRCh38 |
| NC_000015.9:g.48737355_48737356insCACATATATATATGTA , CM000677.1:g.48737355_48737356insCACATATATATATGTA | GRCh37 |
| NC_000015.8:g.46524647_46524648insCACATATATATATGTA | NCBI36 |
| NG_008805.2:g.205631_205632insACATATATATATGTGT , LRG_778:g.205631_205632insACATATATATATGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+218_5917+219insACATATATATATGTGT | ENSP00000453958.2:n.5917+218_5917+219insACATATATATATGTGT | |
| ENST00000674301.2:c.5917+218_5917+219insACATATATATATGTGT | ENSP00000501333.2:n.5917+218_5917+219insACATATATATATGTGT | |
| ENST00000684448.1:n.4591+218_4591+219insACATATATATATGTGT | ||
| ENST00000316623.10:c.5917+218_5917+219insACATATATATATGTGT MANE Select | ENSP00000325527.5:n.5917+218_5917+219insACATATATATATGTGT | |
| ENST00000674301.1:c.916+218_916+219insACATATATATATGTGT | ENSP00000501333.1:n.916+218_916+219insACATATATATATGTGT | |
| ENST00000316623.9:c.5917+218_5917+219insACATATATATATGTGT | ENSP00000325527.5:n.5917+218_5917+219insACATATATATATGTGT | |
| ENST00000537463.6:c.*1680+218_*1680+219insACATATATATATGTGT | ENSP00000440294.2:n.*1680+218_*1680+219insACATATATATATGTGT | |
| ENST00000559133.5:c.1224+218_1224+219insACATATATATATGTGT | ||
| ENST00000560820.1:n.37+218_37+219insACATATATATATGTGT | ||
| NM_000138.4:c.5917+218_5917+219insACATATATATATGTGT , LRG_778t1:c.5917+218_5917+219insACATATATATATGTGT | NP_000129.3:n.5917+218_5917+219insACATATATATATGTGT | |
| NM_000138.5:c.5917+218_5917+219insACATATATATATGTGT MANE Select | NP_000129.3:n.5917+218_5917+219insACATATATATATGTGT |