Linked Data
dbSNP Id:
rs1566847582
gnomAD v2:
14-95085677-GGT-G
gnomAD v4:
14-94619340-GGT-G
MyVariant Identifiers:
chr14:g.95085678_95085679del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94619342_94619343del , CM000676.2:g.94619342_94619343del | GRCh38 |
| NC_000014.8:g.95085679_95085680del , CM000676.1:g.95085679_95085680del | GRCh37 |
| NC_000014.7:g.94155432_94155433del | NCBI36 |
| NG_012879.1:g.11966_11967del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.791_792del MANE Select | ENSP00000376793.3:p.Val264GlyfsTer16 | |
| ENST00000393078.4:c.791_792del | ENSP00000376793.3:p.Val264GlyfsTer16 | |
| ENST00000393080.8:c.791_792del | ENSP00000376795.4:p.Val264GlyfsTer16 | |
| ENST00000467132.5:c.791_792del | ENSP00000450540.1:p.Val264GlyfsTer16 | |
| ENST00000482740.2:c.137_138del | ENSP00000451119.1:p.Val46GlyfsTer16 | |
| ENST00000553947.1:c.1754_1755del | ||
| ENST00000555820.1:c.791_792del | ENSP00000452246.3:p.Val264GlyfsTer16 | |
| ENST00000556388.1:n.58-2999_58-2998del | ||
| ENST00000556968.2:c.644-2999_644-2998del | ENSP00000452476.1:n.644-2999_644-2998del | |
| ENST00000621603.1:c.10_11del | ||
| NM_001085.4:c.791_792del | NP_001076.2:p.Val264GlyfsTer16 | |
| NM_001085.5:c.791_792del MANE Select | NP_001076.2:p.Val264GlyfsTer16 | |
| NM_001384672.1:c.791_792del | NP_001371601.1:p.Val264GlyfsTer16 | |
| NM_001384673.1:c.791_792del | NP_001371602.1:p.Val264GlyfsTer16 | |
| NM_001384674.1:c.791_792del | NP_001371603.1:p.Val264GlyfsTer16 |