Linked Data
ClinVar Variation Id:
524024
ClinVar RCV Id:
RCV000627518
dbSNP Id:
rs1554701945
gnomAD v3:
9-97689582-T-TCCATAAATTCTTTC
gnomAD v4:
9-97689582-T-TCCATAAATTCTTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97689586_97689599dup , CM000671.2:g.97689586_97689599dup | GRCh38 |
| NC_000009.11:g.100451868_100451881dup , CM000671.1:g.100451868_100451881dup | GRCh37 |
| NC_000009.10:g.99491689_99491702dup | NCBI36 |
| NG_011642.1:g.12814_12827dup , LRG_471:g.12814_12827dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.327_340dup MANE Select | ENSP00000364270.5:p.Asp114GlyfsTer10 | |
| ENST00000375128.4:c.327_340dup | ENSP00000364270.4:p.Asp114GlyfsTer10 | |
| ENST00000462523.5:c.327_340dup | ENSP00000433006.1:p.Asp114GlyfsTer10 | |
| ENST00000496104.1:n.184-2335_184-2322dup | ||
| NM_000380.3:c.327_340dup , LRG_471t1:c.327_340dup | NP_000371.1:p.Asp114GlyfsTer10 | |
| NR_027302.1:n.444_457dup | ||
| XM_006717278.1:c.327_340dup | XP_006717341.1:p.Asp114GlyfsTer10 | |
| XM_011518988.1:c.327_340dup | XP_011517290.1:p.Asp114GlyfsTer10 | |
| XR_929839.1:n.438_451dup | ||
| NM_001354975.1:c.201_214dup | NP_001341904.1:p.Asp72GlyfsTer10 | |
| NR_149091.1:n.400+4053_400+4066dup | ||
| NR_149092.1:n.401-2335_401-2322dup | ||
| NR_149093.1:n.444_457dup | ||
| NR_149094.1:n.401-2335_401-2322dup | ||
| NM_000380.4:c.327_340dup MANE Select | NP_000371.1:p.Asp114GlyfsTer10 | |
| NM_001354975.2:c.201_214dup | NP_001341904.1:p.Asp72GlyfsTer10 | |
| NR_027302.2:n.375_388dup | ||
| NR_149091.2:n.331+4053_331+4066dup | ||
| NR_149092.2:n.332-2335_332-2322dup | ||
| NR_149093.2:n.375_388dup | ||
| NR_149094.2:n.332-2335_332-2322dup |