Linked Data
ClinVar Variation Id:
280544
ClinVar RCV Id:
RCV000289791
dbSNP Id:
rs760309219
ExAC:
3:185237026 TG / T
gnomAD v2:
3-185237026-TG-T
gnomAD v3:
3-185519238-TG-T
gnomAD v4:
3-185519238-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185519239del , CM000665.2:g.185519239del | GRCh38 |
| NC_000003.11:g.185237027del , CM000665.1:g.185237027del | GRCh37 |
| NC_000003.10:g.186719721del | NCBI36 |
| NG_012183.1:g.38343del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296252.9:c.789del MANE Select | ENSP00000296252.4:p.Cys263Ter | |
| ENST00000296252.8:c.789del | ENSP00000296252.4:p.Cys263Ter | |
| ENST00000424591.6:c.687del | ENSP00000396384.2:p.Cys229Ter | |
| ENST00000452897.1:c.161del | ||
| NM_139248.2:c.789del | NP_640341.1:p.Cys263Ter | |
| XM_006713529.2:c.699del | XP_006713592.1:p.Cys233Ter | |
| XM_011512530.1:c.660del | XP_011510832.1:p.Cys220Ter | |
| XM_011512531.1:c.660del | XP_011510833.1:p.Cys220Ter | |
| XM_006713529.4:c.699del | XP_006713592.1:p.Cys233Ter | |
| XM_011512530.3:c.660del | XP_011510832.1:p.Cys220Ter | |
| XM_011512531.3:c.660del | XP_011510833.1:p.Cys220Ter | |
| XM_017005852.2:c.687del | XP_016861341.1:p.Cys229Ter | |
| NM_139248.3:c.789del MANE Select | NP_640341.1:p.Cys263Ter |