Linked Data
ClinVar Variation Id:
2898
dbSNP Id:
rs780017389
ExAC:
17:42458268 TGTCTAC / T
gnomAD v2:
17-42458268-TGTCTAC-T
PubMed:
PMID:8704171
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44380902_44380907del , CM000679.2:g.44380902_44380907del | GRCh38 |
| NC_000017.10:g.42458270_42458275del , CM000679.1:g.42458270_42458275del | GRCh37 |
| NC_000017.9:g.39813796_39813801del | NCBI36 |
| NG_008331.1:g.13600_13605del , LRG_479:g.13600_13605del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.1366_1371del MANE Select | ENSP00000262407.5:p.Val456_Asp457del | |
| ENST00000648408.1:c.797_802del | ||
| ENST00000262407.5:c.1366_1371del | ENSP00000262407.5:p.Val456_Asp457del | |
| ENST00000592226.5:n.606_611del | ||
| ENST00000592462.5:n.161_166del | ||
| NM_000419.3:c.1366_1371del , LRG_479t1:c.1366_1371del | NP_000410.2:p.Val456_Asp457del | |
| XM_011524749.1:c.1366_1371del | XP_011523051.1:p.Val456_Asp457del | |
| XM_011524750.1:c.1366_1371del | XP_011523052.1:p.Val456_Asp457del | |
| NM_000419.4:c.1366_1371del | NP_000410.2:p.Val456_Asp457del | |
| NM_000419.5:c.1366_1371del MANE Select | NP_000410.2:p.Val456_Asp457del |