Linked Data
ClinVar Variation Id:
18216
ClinVar RCV Id:
RCV000019877
dbSNP Id:
rs77158239
ExAC:
4:74285994 TC / T
gnomAD v2:
4-74285994-TC-T
gnomAD v3:
4-73420277-TC-T
gnomAD v4:
4-73420277-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73420278del , CM000666.2:g.73420278del | GRCh38 |
| NC_000004.11:g.74285995del , CM000666.1:g.74285995del | GRCh37 |
| NC_000004.10:g.74504859del | NCBI36 |
| NG_009291.1:g.21024del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1810del MANE Select | ENSP00000295897.4:p.Gln604LysfsTer4 | |
| ENST00000295897.8:c.1810del | ENSP00000295897.4:p.Gln604LysfsTer4 | |
| ENST00000401494.7:c.1465del | ENSP00000384695.3:p.Gln489LysfsTer4 | |
| ENST00000415165.6:c.1234del | ENSP00000401820.2:p.Gln412LysfsTer4 | |
| ENST00000476441.6:c.*1089del | ENSP00000423727.1:n.*1089del | |
| ENST00000495173.1:n.118del | ||
| ENST00000503124.5:c.1360del | ENSP00000421027.1:p.Gln454LysfsTer4 | |
| ENST00000505649.5:n.1357del | ||
| ENST00000508932.5:n.200del | ||
| ENST00000509063.5:c.1785+639del | ENSP00000422784.1:n.1785+639del | |
| ENST00000511370.1:c.1343del | ||
| ENST00000621085.4:c.1171del | ENSP00000483421.1:p.Gln391LysfsTer4 | |
| ENST00000621628.4:c.1171del | ENSP00000480485.1:p.Gln391LysfsTer4 | |
| NM_000477.5:c.1810del | NP_000468.1:p.Gln604LysfsTer4 | |
| NM_000477.6:c.1810del | NP_000468.1:p.Gln604LysfsTer4 | |
| NM_000477.7:c.1810del MANE Select | NP_000468.1:p.Gln604LysfsTer4 |