Linked Data
ClinVar Variation Id:
2196384
ClinVar RCV Id:
RCV002633630
dbSNP Id:
rs1885664895
gnomAD v4:
12-109591256-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591262dup , CM000674.2:g.109591262dup | GRCh38 |
| NC_000012.11:g.110029067dup , CM000674.1:g.110029067dup | GRCh37 |
| NC_000012.10:g.108513450dup | NCBI36 |
| NG_007702.1:g.22568dup , LRG_156:g.22568dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-54dup | ENSP00000439134.1:n.-54dup | |
| ENST00000546277.6:c.790dup | ENSP00000438153.2:p.Leu264ProfsTer13 | |
| ENST00000636529.2:n.429dup | ||
| ENST00000697195.1:c.*554dup | ENSP00000513181.1:n.*554dup | |
| ENST00000697196.1:c.878dup | ENSP00000513182.1:p.Pro294SerfsTer2 | |
| ENST00000697197.1:n.2819dup | ||
| ENST00000228510.8:c.790dup MANE Select | ENSP00000228510.3:p.Leu264ProfsTer13 | |
| ENST00000636529.1:c.415dup | ||
| ENST00000636996.1:c.638dup | ||
| ENST00000228510.7:c.790dup | ENSP00000228510.3:p.Leu264ProfsTer13 | |
| ENST00000392727.7:c.634dup | ENSP00000376487.3:p.Leu212ProfsTer13 | |
| ENST00000447878.6:c.*237dup | ENSP00000415555.2:n.*237dup | |
| ENST00000537237.5:c.*463dup | ENSP00000445382.1:n.*463dup | |
| ENST00000539575.4:c.790dup | ENSP00000443551.2:p.Leu264ProfsTer13 | |
| ENST00000539696.5:c.-54dup | ENSP00000439134.1:n.-54dup | |
| ENST00000540353.1:n.3023dup | ||
| ENST00000625889.2:c.634dup | ENSP00000486846.1:p.Leu212ProfsTer13 | |
| ENST00000629016.2:c.*237dup | ENSP00000486804.1:n.*237dup | |
| NM_000431.3:c.790dup | NP_000422.1:p.Leu264ProfsTer13 | |
| NM_001114185.2:c.790dup | NP_001107657.1:p.Leu264ProfsTer13 | |
| NM_001301182.1:c.634dup | NP_001288111.1:p.Leu212ProfsTer13 | |
| XM_011538372.1:c.790dup | XP_011536674.1:p.Leu264ProfsTer13 | |
| XM_017019313.2:c.634dup | XP_016874802.1:p.Leu212ProfsTer13 | |
| XM_017019314.1:c.790dup | XP_016874803.1:p.Leu264ProfsTer13 | |
| XM_024448982.1:c.790dup | XP_024304750.1:p.Leu264ProfsTer13 | |
| NM_000431.4:c.790dup MANE Select | NP_000422.1:p.Leu264ProfsTer13 | |
| NM_001114185.3:c.790dup | NP_001107657.1:p.Leu264ProfsTer13 | |
| NM_001301182.2:c.634dup | NP_001288111.1:p.Leu212ProfsTer13 |