Linked Data
dbSNP Id:
rs779479529
ExAC:
19:50333069 TC / T
gnomAD v2:
19-50333069-TC-T
gnomAD v4:
19-49829812-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49829816del , CM000681.2:g.49829816del | GRCh38 |
| NC_000019.9:g.50333073del , CM000681.1:g.50333073del | GRCh37 |
| NC_000019.8:g.55024885del | NCBI36 |
| NG_017091.1:g.16538del , LRG_368:g.16538del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.556del | ENSP00000470692.3:p.Arg186GlyfsTer28 | |
| ENST00000312865.10:c.556del MANE Select | ENSP00000326767.5:p.Arg186GlyfsTer28 | |
| ENST00000538643.5:c.181-695del | ENSP00000437496.1:n.181-695del | |
| ENST00000595185.5:c.556del | ENSP00000470027.1:p.Arg186GlyfsTer28 | |
| ENST00000612791.4:c.556del | ENSP00000479851.1:p.Arg186GlyfsTer? | |
| ENST00000612854.4:c.450+801del | ENSP00000482155.1:n.450+801del | |
| ENST00000617849.4:c.158-923del | ENSP00000484882.1:n.158-923del | |
| ENST00000618715.4:c.158-922del | ENSP00000480731.1:n.158-922del | |
| ENST00000620467.4:c.556del | ENSP00000482659.1:p.Arg186GlyfsTer28 | |
| ENST00000622402.4:c.146-6011del | ENSP00000478074.1:n.146-6011del | |
| NM_030973.3:c.556del , LRG_368t1:c.556del | NP_112235.2:p.Arg186GlyfsTer28 | |
| XM_011527353.1:c.556del | XP_011525655.1:p.Arg186GlyfsTer28 | |
| NM_001378355.1:c.556del | NP_001365284.1:p.Arg186GlyfsTer28 | |
| NM_030973.4:c.556del MANE Select | NP_112235.2:p.Arg186GlyfsTer28 |