Linked Data
dbSNP Id:
rs767389409
gnomAD v2:
19-50333752-TCCCTTCTA-T
gnomAD v4:
19-49830495-TCCCTTCTA-T
MyVariant Identifiers:
chr19:g.50333753_50333760del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49830499_49830506del , CM000681.2:g.49830499_49830506del | GRCh38 |
| NC_000019.9:g.50333756_50333763del , CM000681.1:g.50333756_50333763del | GRCh37 |
| NC_000019.8:g.55025568_55025575del | NCBI36 |
| NG_017091.1:g.17221_17228del , LRG_368:g.17221_17228del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.820-12_820-5del | ENSP00000470692.3:n.820-12_820-5del | |
| ENST00000312865.10:c.820-12_820-5del MANE Select | ENSP00000326767.5:n.820-12_820-5del | |
| ENST00000538643.5:c.181-12_181-5del | ENSP00000437496.1:n.181-12_181-5del | |
| ENST00000595185.5:c.688+551_688+558del | ENSP00000470027.1:n.688+551_688+558del | |
| ENST00000612791.4:c.761+337_761+344del | ENSP00000479851.1:n.761+337_761+344del | |
| ENST00000612854.4:c.450+1484_450+1491del | ENSP00000482155.1:n.450+1484_450+1491del | |
| ENST00000617849.4:c.158-240_158-233del | ENSP00000484882.1:n.158-240_158-233del | |
| ENST00000618715.4:c.158-239_158-232del | ENSP00000480731.1:n.158-239_158-232del | |
| ENST00000620467.4:c.820-12_820-5del | ENSP00000482659.1:n.820-12_820-5del | |
| ENST00000622402.4:c.146-5328_146-5321del | ENSP00000478074.1:n.146-5328_146-5321del | |
| NM_030973.3:c.820-12_820-5del , LRG_368t1:c.820-12_820-5del | NP_112235.2:n.820-12_820-5del | |
| XM_011527353.1:c.820-12_820-5del | XP_011525655.1:n.820-12_820-5del | |
| NM_001378355.1:c.820-12_820-5del | NP_001365284.1:n.820-12_820-5del | |
| NM_030973.4:c.820-12_820-5del MANE Select | NP_112235.2:n.820-12_820-5del |