Linked Data
ClinVar Variation Id:
446455
dbSNP Id:
rs1554360678
gnomAD v4:
7-107700115-A-AT
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107700119dup , CM000669.2:g.107700119dup | GRCh38 |
| NC_000007.13:g.107340564dup , CM000669.1:g.107340564dup | GRCh37 |
| NC_000007.12:g.107127800dup | NCBI36 |
| NG_008489.1:g.44485dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1651dup MANE Select | ENSP00000494017.1:p.Ser551PhefsTer13 | |
| ENST00000644846.1:c.362dup | ||
| ENST00000265715.7:c.1651dup | ENSP00000265715.3:p.Ser551PhefsTer13 | |
| ENST00000477350.5:n.498dup | ||
| ENST00000480841.5:n.500dup | ||
| ENST00000492030.2:n.34dup | ||
| NM_000441.1:c.1651dup | NP_000432.1:p.Ser551PhefsTer13 | |
| XM_005250425.1:c.1651dup | XP_005250482.1:p.Ser551PhefsTer13 | |
| XM_005250425.2:c.1651dup | XP_005250482.1:p.Ser551PhefsTer13 | |
| XM_017012318.1:c.1573dup | XP_016867807.1:p.Ser525PhefsTer13 | |
| NM_000441.2:c.1651dup MANE Select | NP_000432.1:p.Ser551PhefsTer13 |