Linked Data
dbSNP Id:
rs755262743
ExAC:
2:55894078 TAAAC / T
gnomAD v2:
2-55894078-TAAAC-T
gnomAD v3:
2-55666943-TAAAC-T
gnomAD v4:
2-55666943-TAAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55666946_55666949del , CM000664.2:g.55666946_55666949del | GRCh38 |
| NC_000002.11:g.55894081_55894084del , CM000664.1:g.55894081_55894084del | GRCh37 |
| NC_000002.10:g.55747585_55747588del | NCBI36 |
| NG_033012.1:g.31964_31967del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1176+44_1176+47del MANE Select | ENSP00000400646.2:n.1176+44_1176+47del | |
| ENST00000260604.8:c.*731+44_*731+47del | ENSP00000260604.4:n.*731+44_*731+47del | |
| ENST00000415374.5:c.1176+44_1176+47del | ENSP00000393953.1:n.1176+44_1176+47del | |
| ENST00000415489.1:c.250+44_250+47del | ||
| ENST00000447944.6:c.1176+44_1176+47del | ENSP00000400646.2:n.1176+44_1176+47del | |
| NM_033109.4:c.1176+44_1176+47del | NP_149100.2:n.1176+44_1176+47del | |
| XM_005264629.1:c.936+44_936+47del | XP_005264686.1:n.936+44_936+47del | |
| XM_011533142.1:c.1176+44_1176+47del | XP_011531444.1:n.1176+44_1176+47del | |
| XM_005264629.2:c.936+44_936+47del | XP_005264686.1:n.936+44_936+47del | |
| XM_017005172.1:c.936+44_936+47del | XP_016860661.1:n.936+44_936+47del | |
| XR_001739010.1:n.1206+44_1206+47del | ||
| NM_033109.5:c.1176+44_1176+47del MANE Select | NP_149100.2:n.1176+44_1176+47del |