Linked Data
ClinVar Variation Id:
553225
ClinVar RCV Id:
RCV000668626
dbSNP Id:
rs775915490
MyVariant Identifiers:
chr18:g.23538605dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23538610dup , CM000680.2:g.23538610dup | GRCh38 |
| NC_000018.9:g.21118574dup , CM000680.1:g.21118574dup | GRCh37 |
| NC_000018.8:g.19372572dup | NCBI36 |
| NG_012795.1:g.53013dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2978dup MANE Select | ENSP00000269228.4:p.Asp994ArgfsTer13 | |
| ENST00000269228.9:c.2978dup | ENSP00000269228.4:p.Asp994ArgfsTer13 | |
| ENST00000591051.1:c.2056dup | ||
| ENST00000591075.1:n.611dup | ||
| ENST00000591955.1:n.321dup | ||
| NM_000271.4:c.2978dup | NP_000262.2:p.Asp994ArgfsTer13 | |
| XM_005258277.1:c.3029dup | XP_005258334.1:p.Asp1011ArgfsTer13 | |
| XM_005258278.3:c.3029dup | XP_005258335.1:p.Asp1011ArgfsTer13 | |
| XM_005258279.1:c.2978dup | XP_005258336.1:p.Asp994ArgfsTer13 | |
| XM_006722479.2:c.3029dup | XP_006722542.1:p.Asp1011ArgfsTer13 | |
| XM_011526015.1:c.2564dup | XP_011524317.1:p.Asp856ArgfsTer13 | |
| XM_005258278.5:c.3029dup | XP_005258335.1:p.Asp1011ArgfsTer13 | |
| XM_005258279.2:c.2978dup | XP_005258336.1:p.Asp994ArgfsTer13 | |
| XM_006722479.3:c.3029dup | XP_006722542.1:p.Asp1011ArgfsTer13 | |
| XM_017025784.1:c.3029dup | XP_016881273.1:p.Asp1011ArgfsTer13 | |
| XM_017025785.1:c.3029dup | XP_016881274.1:p.Asp1011ArgfsTer13 | |
| XM_017025786.1:c.2978dup | XP_016881275.1:p.Asp994ArgfsTer13 | |
| XM_017025787.1:c.2978dup | XP_016881276.1:p.Asp994ArgfsTer13 | |
| NM_000271.5:c.2978dup MANE Select | NP_000262.2:p.Asp994ArgfsTer13 |