Linked Data
ClinVar Variation Id:
18224
ClinVar RCV Id:
RCV000019885
dbSNP Id:
rs77449454
PubMed:
PMID:8134387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73413448dup , CM000666.2:g.73413448dup | GRCh38 |
| NC_000004.11:g.74279165dup , CM000666.1:g.74279165dup | GRCh37 |
| NC_000004.10:g.74498029dup | NCBI36 |
| NG_009291.1:g.14194dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.872dup MANE Select | ENSP00000295897.4:p.Asn291LysfsTer8 | |
| ENST00000295897.8:c.872dup | ENSP00000295897.4:p.Asn291LysfsTer8 | |
| ENST00000401494.7:c.527dup | ENSP00000384695.3:p.Asn176LysfsTer8 | |
| ENST00000415165.6:c.296dup | ENSP00000401820.2:p.Asn99LysfsTer8 | |
| ENST00000476441.6:c.*151dup | ENSP00000423727.1:n.*151dup | |
| ENST00000484992.1:n.192dup | ||
| ENST00000503124.5:c.422dup | ENSP00000421027.1:p.Asn141LysfsTer8 | |
| ENST00000505649.5:n.558dup | ||
| ENST00000509063.5:c.872dup | ENSP00000422784.1:p.Asn291LysfsTer8 | |
| ENST00000511370.1:c.405dup | ||
| ENST00000621085.4:c.491-1658dup | ENSP00000483421.1:n.491-1658dup | |
| ENST00000621628.4:c.487-1654dup | ENSP00000480485.1:n.487-1654dup | |
| NM_000477.5:c.872dup | NP_000468.1:p.Asn291LysfsTer8 | |
| NM_000477.6:c.872dup | NP_000468.1:p.Asn291LysfsTer8 | |
| NM_000477.7:c.872dup MANE Select | NP_000468.1:p.Asn291LysfsTer8 |