Linked Data
ClinVar Variation Id:
1326930
ClinVar RCV Id:
RCV001787315
dbSNP Id:
rs2152010877
COSMIC:
COSM4718042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721791dup , CM000668.2:g.42721791dup | GRCh38 |
| NC_000006.11:g.42689529dup , CM000668.1:g.42689529dup | GRCh37 |
| NC_000006.10:g.42797507dup | NCBI36 |
| NG_009176.1:g.5831dup | |
| NG_009176.2:g.5831dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.545dup MANE Select | ENSP00000230381.5:p.Asn182LysfsTer? | |
| ENST00000230381.6:c.545dup | ENSP00000230381.5:p.Asn182LysfsTer? | |
| NM_000322.4:c.545dup | NP_000313.2:p.Asn182LysfsTer? | |
| XR_427834.2:n.1200dup | ||
| XR_926295.1:n.1200dup | ||
| XR_427834.4:n.1250dup | ||
| XR_926295.3:n.1250dup | ||
| NM_000322.5:c.545dup MANE Select | NP_000313.2:p.Asn182LysfsTer? |