Linked Data
ClinVar Variation Id:
633663
ClinVar RCV Id:
RCV000782217
dbSNP Id:
rs1233073714
gnomAD v3:
1-196996124-G-GA
gnomAD v4:
1-196996124-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196996127dup , CM000663.2:g.196996127dup | GRCh38 |
| NC_000001.10:g.196965257dup , CM000663.1:g.196965257dup | GRCh37 |
| NC_000001.9:g.195231880dup | NCBI36 |
| NG_016365.1:g.23591dup , LRG_227:g.23591dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.641dup | ENSP00000514393.1:p.Asn214LysfsTer2 | |
| ENST00000699467.1:n.965dup | ||
| ENST00000699468.1:c.-11dup | ENSP00000514394.1:n.-11dup | |
| ENST00000256785.5:c.896dup MANE Select | ENSP00000256785.4:p.Asn299LysfsTer2 | |
| ENST00000256785.4:c.896dup | ENSP00000256785.4:p.Asn299LysfsTer2 | |
| NM_030787.3:c.896dup , LRG_227t1:c.896dup | NP_110414.1:p.Asn299LysfsTer2 | |
| XM_011510020.1:c.905dup | XP_011508322.1:p.Asn302LysfsTer2 | |
| XM_011510020.2:c.905dup | XP_011508322.1:p.Asn302LysfsTer2 | |
| NM_030787.4:c.896dup MANE Select | NP_110414.1:p.Asn299LysfsTer2 |