Linked Data
ClinVar Variation Id:
418938
ClinVar RCV Id:
RCV000486589
dbSNP Id:
rs1064793538
gnomAD v3:
16-16221671-G-GA
gnomAD v4:
16-16221671-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16221672dup , CM000678.2:g.16221672dup | GRCh38 |
| NC_000016.9:g.16315529dup , CM000678.1:g.16315529dup | GRCh37 |
| NC_000016.8:g.16223030dup | NCBI36 |
| NG_007558.2:g.6800dup | |
| NG_007558.3:g.6946dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000574094.6:c.196dup | ENSP00000507301.1:p.Ser66PhefsTer? | |
| ENST00000622290.5:c.196dup | ENSP00000483331.2:p.Ser66PhefsTer? | |
| ENST00000205557.12:c.196dup MANE Select | ENSP00000205557.7:p.Ser66PhefsTer? | |
| ENST00000205557.11:c.196dup | ENSP00000205557.7:p.Ser66PhefsTer? | |
| ENST00000456970.6:c.196dup | ENSP00000405002.2:p.Ser66PhefsTer? | |
| ENST00000574094.5:n.256dup | ||
| ENST00000575728.1:c.196dup | ENSP00000461686.1:p.Ser66PhefsTer? | |
| ENST00000577103.1:c.196dup | ENSP00000459243.1:p.Ser66PhefsTer? | |
| ENST00000622290.4:c.196dup | ENSP00000483331.1:p.Ser66PhefsTer? | |
| NM_001079528.3:c.196dup | NP_001072996.1:p.Ser66PhefsTer? | |
| NM_001171.5:c.196dup | NP_001162.4:p.Ser66PhefsTer? | |
| XM_011522479.1:c.196dup | XP_011520781.1:p.Ser66PhefsTer? | |
| XM_011522480.1:c.-263dup | XP_011520782.1:n.-263dup | |
| XM_011522482.1:c.196dup | XP_011520784.1:p.Ser66PhefsTer? | |
| XR_932836.1:n.431dup | ||
| XR_932837.1:n.432dup | ||
| XR_932838.1:n.432dup | ||
| NM_001079528.4:c.196dup | NP_001072996.1:p.Ser66PhefsTer? | |
| NM_001351800.1:c.-178dup | NP_001338729.1:n.-178dup | |
| NR_147784.1:n.233dup | ||
| XM_011522479.2:c.196dup | XP_011520781.1:p.Ser66PhefsTer? | |
| XM_011522482.3:c.196dup | XP_011520784.1:p.Ser66PhefsTer? | |
| XM_017023212.1:c.196dup | XP_016878701.1:p.Ser66PhefsTer? | |
| XM_017023214.1:c.196dup | XP_016878703.1:p.Ser66PhefsTer? | |
| XM_024450261.1:c.196dup | XP_024306029.1:p.Ser66PhefsTer? | |
| XR_932836.2:n.377dup | ||
| XR_932837.3:n.377dup | ||
| XR_932838.3:n.377dup | ||
| NM_001171.6:c.196dup MANE Select | NP_001162.5:p.Ser66PhefsTer? |