Linked Data
ClinVar Variation Id:
1949051
ClinVar RCV Id:
RCV002675994
dbSNP Id:
rs780128071
ExAC:
11:45931816 TGTAGAA / T
gnomAD v2:
11-45931816-TGTAGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910271_45910276del , CM000673.2:g.45910271_45910276del | GRCh38 |
| NC_000011.9:g.45931822_45931827del , CM000673.1:g.45931822_45931827del | GRCh37 |
| NC_000011.8:g.45888398_45888403del | NCBI36 |
| NG_008460.1:g.12853_12858del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.994_999del MANE Select | ENSP00000368024.5:p.Phe332_Tyr333del | |
| ENST00000241041.7:c.953-94_953-89del | ENSP00000241041.3:n.953-94_953-89del | |
| ENST00000378750.9:c.994_999del | ENSP00000368024.5:p.Phe332_Tyr333del | |
| ENST00000523721.2:n.224_229del | ||
| ENST00000532681.5:c.709_714del | ENSP00000434654.1:p.Phe237_Tyr238del | |
| NM_004813.2:c.994_999del | NP_004804.1:p.Phe332_Tyr333del | |
| NM_057174.2:c.953-94_953-89del | NP_476515.1:n.953-94_953-89del | |
| XM_011520474.1:c.871_876del | XP_011518776.1:p.Phe291_Tyr292del | |
| NM_004813.3:c.994_999del | NP_004804.1:p.Phe332_Tyr333del | |
| NM_004813.4:c.994_999del MANE Select | NP_004804.2:p.Phe332_Tyr333del | |
| NM_057174.3:c.953-94_953-89del | NP_476515.2:n.953-94_953-89del |