Linked Data
dbSNP Id:
rs1451489180
gnomAD v2:
8-87683219-TTTTTCTTGTAGAGGGCTG-T
gnomAD v4:
8-86670991-TTTTTCTTGTAGAGGGCTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670994_86671011del , CM000670.2:g.86670994_86671011del | GRCh38 |
| NC_000008.10:g.87683222_87683239del , CM000670.1:g.87683222_87683239del | GRCh37 |
| NC_000008.9:g.87752338_87752355del | NCBI36 |
| NG_016980.1:g.77667_77684del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.428_445del MANE Select | ENSP00000316605.5:p.Thr143_Lys148del | |
| ENST00000680314.1:n.189_206del | ||
| ENST00000681746.1:c.428_445del | ENSP00000505959.1:p.Thr143_Lys148del | |
| ENST00000320005.5:c.428_445del | ENSP00000316605.5:p.Thr143_Lys148del | |
| NM_019098.4:c.428_445del | NP_061971.3:p.Thr143_Lys148del | |
| XM_011517138.1:c.14_31del | XP_011515440.1:p.Thr5_Lys10del | |
| XM_011517138.2:c.14_31del | XP_011515440.1:p.Thr5_Lys10del | |
| NM_019098.5:c.428_445del MANE Select | NP_061971.3:p.Thr143_Lys148del |