Linked Data
dbSNP Id:
rs148664759
gnomAD v2:
11-47363934-CCT-C
gnomAD v3:
11-47342383-CCT-C
gnomAD v4:
11-47342383-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342387_47342388del , CM000673.2:g.47342387_47342388del | GRCh38 |
| NC_000011.9:g.47363938_47363939del , CM000673.1:g.47363938_47363939del | GRCh37 |
| NC_000011.8:g.47320514_47320515del | NCBI36 |
| NG_007667.1:g.15318_15319del , LRG_386:g.15318_15319del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1624+193_1624+194del MANE Select | ENSP00000442795.1:n.1624+193_1624+194del | |
| ENST00000256993.8:c.1624+193_1624+194del | ENSP00000256993.5:n.1624+193_1624+194del | |
| ENST00000399249.6:c.1624+193_1624+194del | ENSP00000382193.2:n.1624+193_1624+194del | |
| ENST00000544791.1:c.1624+193_1624+194del | ENSP00000444259.1:n.1624+193_1624+194del | |
| ENST00000545968.5:c.1624+193_1624+194del | ENSP00000442795.1:n.1624+193_1624+194del | |
| NM_000256.3:c.1624+193_1624+194del , LRG_386t1:c.1624+193_1624+194del MANE Select | NP_000247.2:n.1624+193_1624+194del | |
| XM_011520117.1:c.1606+193_1606+194del | XP_011518419.1:n.1606+193_1606+194del | |
| XM_011520118.1:c.1624+193_1624+194del | XP_011518420.1:n.1624+193_1624+194del |