Linked Data
ClinVar Variation Id:
4691
ClinVar RCV Id:
RCV000389442
RCV000334899
RCV000416485
RCV001529584
RCV001701717
RCV001781184
RCV002468553
RCV002260960
RCV002512781
RCV003224089
dbSNP Id:
rs2066847
ExAC:
16:50763778 G / GC
gnomAD v2:
16-50763778-G-GC
gnomAD v3:
16-50729867-G-GC
gnomAD v4:
16-50729867-G-GC
COSMIC:
COSM1683498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50729870dup , CM000678.2:g.50729870dup | GRCh38 |
| NC_000016.9:g.50763781dup , CM000678.1:g.50763781dup | GRCh37 |
| NC_000016.8:g.49321282dup | NCBI36 |
| NG_007508.1:g.37732dup , LRG_177:g.37732dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.*52dup | ENSP00000493088.1:n.*52dup | |
| ENST00000646677.2:c.*703dup | ENSP00000496533.1:n.*703dup | |
| ENST00000697428.1:n.2416dup | ||
| ENST00000641284.1:c.*52dup | ENSP00000493088.1:n.*52dup | |
| ENST00000646677.1:c.*703dup | ENSP00000496533.1:n.*703dup | |
| ENST00000647318.2:c.2938dup MANE Select | ENSP00000495993.1:p.Leu980ProfsTer2 | |
| ENST00000300589.6:c.3019dup | ENSP00000300589.2:p.Leu1007ProfsTer2 | |
| NM_001293557.1:c.2938dup | NP_001280486.1:p.Leu980ProfsTer2 | |
| NM_022162.2:c.3019dup | NP_071445.1:p.Leu1007ProfsTer2 | |
| XM_005256084.2:c.2938dup | XP_005256141.1:p.Leu980ProfsTer2 | |
| XM_006721242.2:c.2854dup | XP_006721305.1:p.Leu952ProfsTer2 | |
| XM_011523257.1:c.2515dup | XP_011521559.1:p.Leu839ProfsTer2 | |
| XM_011523258.1:c.2515dup | XP_011521560.1:p.Leu839ProfsTer2 | |
| XM_011523259.1:c.2353dup | XP_011521561.1:p.Leu785ProfsTer2 | |
| XM_005256084.4:c.2938dup | XP_005256141.1:p.Leu980ProfsTer2 | |
| XM_006721242.4:c.2854dup | XP_006721305.1:p.Leu952ProfsTer2 | |
| XM_011523259.2:c.2353dup | XP_011521561.1:p.Leu785ProfsTer2 | |
| XM_017023535.1:c.2446dup | XP_016879024.1:p.Leu816ProfsTer2 | |
| XM_017023536.1:c.2353dup | XP_016879025.1:p.Leu785ProfsTer2 | |
| XM_017023537.1:c.2353dup | XP_016879026.1:p.Leu785ProfsTer2 | |
| XM_017023538.1:c.2353dup | XP_016879027.1:p.Leu785ProfsTer2 | |
| NM_001293557.2:c.2938dup | NP_001280486.1:p.Leu980ProfsTer2 | |
| NM_001370466.1:c.2938dup MANE Select | NP_001357395.1:p.Leu980ProfsTer2 | |
| NM_022162.3:c.3019dup | NP_071445.1:p.Leu1007ProfsTer2 | |
| NR_163434.1:n.3150dup |