Linked Data
ClinVar Variation Id:
313450
dbSNP Id:
rs33943216
gnomAD v2:
14-61112234-TA-T
gnomAD v3:
14-60645516-TA-T
gnomAD v4:
14-60645516-TA-T
MyVariant Identifiers:
chr14:g.61112236del (hg19)
chr14:g.61112235del (hg19)
chr14:g.60645518del (hg38)
chr14:g.60645517del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60645528del , CM000676.2:g.60645528del | GRCh38 |
| NC_000014.8:g.61112246del , CM000676.1:g.61112246del | GRCh37 |
| NC_000014.7:g.60181999del | NCBI36 |
| NG_008231.1:g.8921del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645694.3:c.*766del MANE Select | ENSP00000494686.1:n.*766del | |
| ENST00000247182.6:c.*766del | ENSP00000247182.5:n.*766del | |
| ENST00000553535.2:n.1309del | ||
| ENST00000554986.2:c.*766del | ENSP00000452700.2:n.*766del | |
| ENST00000555955.3:n.2258del | ||
| NM_005982.3:c.*766del | NP_005973.1:n.*766del | |
| XM_017021602.2:c.*1040del | XP_016877091.1:n.*1040del | |
| NM_005982.4:c.*766del MANE Select | NP_005973.1:n.*766del |