Linked Data
dbSNP Id:
rs753234630
ExAC:
19:46270091 CCT / C
gnomAD v2:
19-46270091-CCT-C
gnomAD v3:
19-45766833-CCT-C
gnomAD v4:
19-45766833-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766834_45766835del , CM000681.2:g.45766834_45766835del | GRCh38 |
| NC_000019.9:g.46270092_46270093del , CM000681.1:g.46270092_46270093del | GRCh37 |
| NC_000019.8:g.50961932_50961933del | NCBI36 |
| NG_012745.1:g.7405_7406del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1124_1125del MANE Select | ENSP00000316842.4:p.Gln375ArgfsTer29 | |
| ENST00000317578.6:c.1124_1125del | ENSP00000316842.4:p.Gln375ArgfsTer29 | |
| ENST00000560160.1:c.587-724_587-723del | ||
| ENST00000560168.1:c.*312_*313del | ENSP00000453189.2:n.*312_*313del | |
| ENST00000622857.1:c.16-873_16-872del | ENSP00000481365.1:n.16-873_16-872del | |
| NM_175875.4:c.1124_1125del | NP_787071.2:p.Gln375ArgfsTer29 | |
| NM_175875.5:c.1124_1125del MANE Select | NP_787071.3:p.Gln375ArgfsTer29 |