Linked Data
ClinVar Variation Id:
1459305
ClinVar RCV Id:
RCV001975191
dbSNP Id:
rs1688010642
COSMIC:
COSM4665878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202530854dup , CM000664.2:g.202530854dup | GRCh38 |
| NC_000002.11:g.203395577dup , CM000664.1:g.203395577dup | GRCh37 |
| NC_000002.10:g.203103822dup | NCBI36 |
| NG_009363.1:g.159528dup , LRG_712:g.159528dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1028dup MANE Select | ENSP00000363708.4:p.Asn343LysfsTer2 | |
| ENST00000638587.1:c.959dup | ENSP00000491062.1:p.Asn320LysfsTer2 | |
| ENST00000374574.2:c.1028dup | ENSP00000363702.2:p.Asn343LysfsTer2 | |
| ENST00000374580.8:c.1028dup | ENSP00000363708.4:p.Asn343LysfsTer2 | |
| NM_001204.6:c.1028dup , LRG_712t1:c.1028dup | NP_001195.2:p.Asn343LysfsTer2 | |
| XM_011511687.1:c.1028dup | XP_011509989.1:p.Asn343LysfsTer2 | |
| XM_011511688.1:c.1028dup | XP_011509990.1:p.Asn343LysfsTer2 | |
| NM_001204.7:c.1028dup MANE Select | NP_001195.2:p.Asn343LysfsTer2 |