Linked Data
dbSNP Id:
rs1264384635
gnomAD v2:
19-41838332-TAAC-T
gnomAD v3:
19-41332427-TAAC-T
gnomAD v4:
19-41332427-TAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41332432_41332434del , CM000681.2:g.41332432_41332434del | GRCh38 |
| NC_000019.9:g.41838337_41838339del , CM000681.1:g.41838337_41838339del | GRCh37 |
| NC_000019.8:g.46530177_46530179del | NCBI36 |
| NG_013364.1:g.26497_26499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221930.6:c.861-149_861-147del MANE Select | ENSP00000221930.4:n.861-149_861-147del | |
| ENST00000600196.2:c.713-149_713-147del | ENSP00000504008.1:n.713-149_713-147del | |
| ENST00000677934.1:c.635-149_635-147del | ENSP00000504769.1:n.635-149_635-147del | |
| ENST00000221930.5:c.861-149_861-147del | ENSP00000221930.4:n.861-149_861-147del | |
| ENST00000598758.5:c.149-149_149-147del | ||
| ENST00000600196.1:n.173-149_173-147del | ||
| NM_000660.5:c.861-149_861-147del | NP_000651.3:n.861-149_861-147del | |
| XM_011527242.1:c.864-149_864-147del | XP_011525544.1:n.864-149_864-147del | |
| NM_000660.6:c.861-149_861-147del | NP_000651.3:n.861-149_861-147del | |
| XM_011527242.2:c.864-149_864-147del | XP_011525544.1:n.864-149_864-147del | |
| NM_000660.7:c.861-149_861-147del MANE Select | NP_000651.3:n.861-149_861-147del |