Linked Data
dbSNP Id:
rs1164958508
gnomAD v3:
15-41396307-C-CCTTGTGCTTCCACTTCACA
gnomAD v4:
15-41396307-C-CCTTGTGCTTCCACTTCACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41396315_41396333dup , CM000677.2:g.41396315_41396333dup | GRCh38 |
| NC_000015.9:g.41688513_41688531dup , CM000677.1:g.41688513_41688531dup | GRCh37 |
| NC_000015.8:g.39475805_39475823dup | NCBI36 |
| NG_031924.1:g.11135_11153dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260361.9:c.573+161_573+179dup MANE Select | ENSP00000260361.4:n.573+161_573+179dup | |
| ENST00000558719.2:c.573+161_573+179dup | ENSP00000454083.2:n.573+161_573+179dup | |
| ENST00000560978.2:c.573+161_573+179dup | ENSP00000453944.2:n.573+161_573+179dup | |
| ENST00000676533.1:c.573+161_573+179dup | ENSP00000504040.1:n.573+161_573+179dup | |
| ENST00000676906.1:c.114+161_114+179dup | ENSP00000503122.1:n.114+161_114+179dup | |
| ENST00000677477.1:n.1799+161_1799+179dup | ||
| ENST00000678029.1:c.573+161_573+179dup | ENSP00000503887.1:n.573+161_573+179dup | |
| ENST00000678745.1:c.573+161_573+179dup | ENSP00000503632.1:n.573+161_573+179dup | |
| ENST00000679094.1:c.573+161_573+179dup | ENSP00000504295.1:n.573+161_573+179dup | |
| ENST00000679240.1:n.971+161_971+179dup | ||
| ENST00000260361.8:c.573+161_573+179dup | ENSP00000260361.4:n.573+161_573+179dup | |
| ENST00000559127.5:c.573+161_573+179dup | ENSP00000453027.1:n.573+161_573+179dup | |
| ENST00000560978.1:c.573+161_573+179dup | ENSP00000453944.1:n.573+161_573+179dup | |
| NM_016013.3:c.573+161_573+179dup | NP_057097.2:n.573+161_573+179dup | |
| NR_045620.1:n.971+161_971+179dup | ||
| XM_006720555.1:c.573+161_573+179dup | XP_006720618.1:n.573+161_573+179dup | |
| XM_011521658.1:c.573+161_573+179dup | XP_011519960.1:n.573+161_573+179dup | |
| XM_011521659.1:c.573+161_573+179dup | XP_011519961.1:n.573+161_573+179dup | |
| XM_006720555.3:c.573+161_573+179dup | XP_006720618.1:n.573+161_573+179dup | |
| XM_011521659.3:c.573+161_573+179dup | XP_011519961.1:n.573+161_573+179dup | |
| XM_024449945.1:c.573+161_573+179dup | XP_024305713.1:n.573+161_573+179dup | |
| NM_016013.4:c.573+161_573+179dup MANE Select | NP_057097.2:n.573+161_573+179dup | |
| NR_045620.2:n.1007+161_1007+179dup |