Linked Data
ClinVar Variation Id:
1947420
ClinVar RCV Id:
RCV002654465
dbSNP Id:
rs1389775898
gnomAD v2:
16-23544102-G-GC
gnomAD v4:
16-23532781-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23532784dup , CM000678.2:g.23532784dup | GRCh38 |
| NC_000016.9:g.23544105dup , CM000678.1:g.23544105dup | GRCh37 |
| NC_000016.8:g.23451606dup | NCBI36 |
| NG_027752.1:g.29594dup | |
| NG_027752.2:g.29594dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.959-17dup MANE Select | ENSP00000395196.2:n.959-17dup | |
| ENST00000674054.1:c.959-17dup | ENSP00000501251.1:n.959-17dup | |
| ENST00000449606.5:c.959-17dup | ENSP00000395196.1:n.959-17dup | |
| ENST00000562402.1:n.563-17dup | ||
| ENST00000563232.1:c.959-17dup | ENSP00000456218.1:n.959-17dup | |
| ENST00000563459.5:c.959-17dup | ENSP00000456467.1:n.959-17dup | |
| ENST00000564501.5:c.959-17dup | ENSP00000457107.1:n.959-17dup | |
| ENST00000564987.1:n.583-17dup | ||
| ENST00000565344.1:n.332-17dup | ||
| NM_001083614.1:c.959-17dup | NP_001077083.1:n.959-17dup | |
| NM_001308211.1:c.959-17dup | NP_001295140.1:n.959-17dup | |
| NR_003501.1:n.991-17dup | ||
| XM_011545738.1:c.887-17dup | XP_011544040.1:n.887-17dup | |
| XM_011545739.1:c.680-17dup | XP_011544041.1:n.680-17dup | |
| XR_001751841.1:n.1281-17dup | ||
| NM_001083614.2:c.959-17dup MANE Select | NP_001077083.1:n.959-17dup | |
| NR_003501.2:n.966-17dup |