Linked Data
ClinVar Variation Id:
316319
ClinVar RCV Id:
RCV000261391
RCV000292933
RCV000296522
RCV000318886
RCV000331601
RCV000353889
RCV000375638
RCV000388474
dbSNP Id:
rs535798341
gnomAD v2:
15-48701236-C-CA
gnomAD v3:
15-48409039-C-CA
gnomAD v4:
15-48409039-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48409042dup , CM000677.2:g.48409042dup | GRCh38 |
| NC_000015.9:g.48701239dup , CM000677.1:g.48701239dup | GRCh37 |
| NC_000015.8:g.46488531dup | NCBI36 |
| NG_008805.2:g.241749dup , LRG_778:g.241749dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682170.1:n.4747dup | ||
| ENST00000682767.1:n.3863dup | ||
| ENST00000316623.10:c.*1950dup MANE Select | ENSP00000325527.5:n.*1950dup | |
| ENST00000316623.9:c.*1950dup | ENSP00000325527.5:n.*1950dup | |
| NM_000138.4:c.*1950dup , LRG_778t1:c.*1950dup | NP_000129.3:n.*1950dup | |
| NM_000138.5:c.*1950dup MANE Select | NP_000129.3:n.*1950dup |