Linked Data
ClinVar Variation Id:
420115
dbSNP Id:
rs200519781
ExAC:
1:152284040 CT / C
gnomAD v2:
1-152284040-CT-C
gnomAD v3:
1-152311564-CT-C
gnomAD v4:
1-152311564-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152311565del , CM000663.2:g.152311565del | GRCh38 |
| NC_000001.10:g.152284041del , CM000663.1:g.152284041del | GRCh37 |
| NC_000001.9:g.150550665del | NCBI36 |
| NG_016190.1:g.18639del , LRG_1028:g.18639del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368799.2:c.3321del MANE Select | ENSP00000357789.1:p.Gly1109GlufsTer13 | |
| ENST00000368799.1:c.3321del | ENSP00000357789.1:p.Gly1109GlufsTer13 | |
| NM_002016.1:c.3321del , LRG_1028t1:c.3321del | NP_002007.1:p.Gly1109GlufsTer13 | |
| XM_011509329.1:c.3321del | XP_011507631.1:p.Gly1109GlufsTer13 | |
| NM_002016.2:c.3321del MANE Select | NP_002007.1:p.Gly1109GlufsTer13 |