Linked Data
ClinVar Variation Id:
539157
ClinVar RCV Id:
RCV000648839
dbSNP Id:
rs1426366988
gnomAD v2:
10-121431762-T-TG
gnomAD v3:
10-119672250-T-TG
gnomAD v4:
10-119672250-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672251dup , CM000672.2:g.119672251dup | GRCh38 |
| NC_000010.10:g.121431763dup , CM000672.1:g.121431763dup | GRCh37 |
| NC_000010.9:g.121421753dup | NCBI36 |
| NG_016125.1:g.25882dup , LRG_742:g.25882dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-4dup MANE Select | ENSP00000358081.4:n.508-4dup | |
| ENST00000369085.7:c.508-4dup | ENSP00000358081.3:n.508-4dup | |
| ENST00000450186.1:c.334-4dup | ENSP00000410036.1:n.334-4dup | |
| NM_004281.3:c.508-4dup , LRG_742t1:c.508-4dup | NP_004272.2:n.508-4dup | |
| XM_005270287.1:c.508-4dup | XP_005270344.1:n.508-4dup | |
| XM_005270287.2:c.508-4dup | XP_005270344.1:n.508-4dup | |
| NM_004281.4:c.508-4dup MANE Select | NP_004272.2:n.508-4dup |