Linked Data
dbSNP Id:
rs761768465
ExAC:
3:49160660 CCTT / C
gnomAD v2:
3-49160660-CCTT-C
gnomAD v3:
3-49123227-CCTT-C
gnomAD v4:
3-49123227-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49123230_49123232del , CM000665.2:g.49123230_49123232del | GRCh38 |
| NC_000003.11:g.49160663_49160665del , CM000665.1:g.49160663_49160665del | GRCh37 |
| NC_000003.10:g.49135667_49135669del | NCBI36 |
| NG_008094.1:g.14937_14939del | |
| NG_054716.1:g.2709_2711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4126_4128del MANE Select | ENSP00000307156.4:p.Lys1376del | |
| ENST00000305544.8:c.4126_4128del | ENSP00000307156.4:p.Lys1376del | |
| ENST00000418109.5:c.4126_4128del | ENSP00000388325.1:p.Lys1376del | |
| ENST00000469665.1:n.356_358del | ||
| NM_002292.3:c.4126_4128del | NP_002283.3:p.Lys1376del | |
| XM_005265127.3:c.4126_4128del | XP_005265184.1:p.Lys1376del | |
| XM_005265127.4:c.4126_4128del | XP_005265184.1:p.Lys1376del | |
| NM_002292.4:c.4126_4128del MANE Select | NP_002283.3:p.Lys1376del |