Linked Data
ClinVar Variation Id:
1455592
ClinVar RCV Id:
RCV001958653
dbSNP Id:
rs2111015862
gnomAD v4:
4-177437507-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177437508dup , CM000666.2:g.177437508dup | GRCh38 |
| NC_000004.11:g.178358662dup , CM000666.1:g.178358662dup | GRCh37 |
| NC_000004.10:g.178595656dup | NCBI36 |
| NG_011845.2:g.9996dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.519dup MANE Select | ENSP00000264595.2:p.Asp174ArgfsTer23 | |
| ENST00000264595.6:c.519dup | ENSP00000264595.2:p.Asp174ArgfsTer23 | |
| ENST00000502310.5:c.174dup | ENSP00000423798.1:p.Asp59ArgfsTer23 | |
| ENST00000506853.5:n.553dup | ||
| ENST00000510635.1:c.215dup | ||
| ENST00000510955.5:n.440dup | ||
| NM_000027.3:c.519dup | NP_000018.2:p.Asp174ArgfsTer23 | |
| NM_001171988.1:c.519dup | NP_001165459.1:p.Asp174ArgfsTer23 | |
| NR_033655.1:n.647dup | ||
| XM_006714123.2:c.519dup | XP_006714186.1:p.Asp174ArgfsTer23 | |
| XR_001741155.2:n.613dup | ||
| NM_000027.4:c.519dup MANE Select | NP_000018.2:p.Asp174ArgfsTer23 | |
| NM_001171988.2:c.519dup | NP_001165459.1:p.Asp174ArgfsTer23 | |
| NR_033655.2:n.581dup |