Linked Data
ClinVar Variation Id:
42683
ClinVar RCV Id:
RCV000035556
dbSNP Id:
rs397516001
PubMed:
PMID:16335287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333680dup , CM000673.2:g.47333680dup | GRCh38 |
| NC_000011.9:g.47355231dup , CM000673.1:g.47355231dup | GRCh37 |
| NC_000011.8:g.47311807dup | NCBI36 |
| NG_007667.1:g.24024dup , LRG_386:g.24024dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3068dup MANE Select | ENSP00000442795.1:p.Asn1023LysfsTer28 | |
| ENST00000256993.8:c.3068dup | ENSP00000256993.5:p.Asn1023LysfsTer28 | |
| ENST00000399249.6:c.3068dup | ENSP00000382193.2:p.Asn1023LysfsTer28 | |
| ENST00000545968.5:c.3068dup | ENSP00000442795.1:p.Asn1023LysfsTer28 | |
| NM_000256.3:c.3068dup , LRG_386t1:c.3068dup MANE Select | NP_000247.2:p.Asn1023LysfsTer28 | |
| XM_011520117.1:c.3050dup | XP_011518419.1:p.Asn1017LysfsTer28 | |
| XM_011520118.1:c.2987dup | XP_011518420.1:p.Asn996LysfsTer28 |