Linked Data
ClinVar Variation Id:
56749
dbSNP Id:
rs386834168
ExAC:
14:103389036 TG / T
gnomAD v2:
14-103389036-TG-T
gnomAD v3:
14-102922699-TG-T
gnomAD v4:
14-102922699-TG-T
MyVariant Identifiers:
chr14:g.103389039del (hg19)
chr14:g.103389037del (hg19)
chr14:g.102922702del (hg38)
chr14:g.102922701del (hg38)
chr14:g.102922700del (hg38)
PubMed:
PMID:12590260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922702del , CM000676.2:g.102922702del | GRCh38 |
| NC_000014.8:g.103389039del , CM000676.1:g.103389039del | GRCh37 |
| NC_000014.7:g.102458792del | NCBI36 |
| NG_008276.2:g.5047del , LRG_642:g.5047del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299155.10:c.14del MANE Select | ENSP00000299155.6:p.Gly5AlafsTer12 | |
| ENST00000299155.9:c.14del | ENSP00000299155.5:p.Gly5AlafsTer12 | |
| NM_030943.3:c.14del , LRG_642t1:c.14del | NP_112205.2:p.Gly5AlafsTer12 | |
| XM_011537202.1:c.-168del | XP_011535504.1:n.-168del | |
| XM_011537202.3:c.-168del | XP_011535504.1:n.-168del | |
| XM_024449714.1:c.110del | XP_024305482.1:p.Gly37AlafsTer12 | |
| NM_030943.4:c.14del MANE Select | NP_112205.2:p.Gly5AlafsTer12 |