Linked Data
ClinVar Variation Id:
282860
dbSNP Id:
rs886042503
gnomAD v2:
4-52904423-CAT-C
gnomAD v3:
4-52038257-CAT-C
gnomAD v4:
4-52038257-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52038258_52038259del , CM000666.2:g.52038258_52038259del | GRCh38 |
| NC_000004.11:g.52904424_52904425del , CM000666.1:g.52904424_52904425del | GRCh37 |
| NC_000004.10:g.52599181_52599182del | NCBI36 |
| NG_008891.1:g.5061_5062del , LRG_204:g.5061_5062del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.1_2del MANE Select | ENSP00000370839.6:p.Met1GlyfsTer23 | |
| ENST00000381431.9:c.1_2del | ENSP00000370839.5:p.Met1GlyfsTer23 | |
| NM_000232.4:c.1_2del , LRG_204t1:c.1_2del | NP_000223.1:p.Met1GlyfsTer23 | |
| XM_011534403.1:c.1_2del | XP_011532705.1:p.Met1GlyfsTer27 | |
| NM_000232.5:c.1_2del MANE Select | NP_000223.1:p.Met1GlyfsTer23 |