Linked Data
ClinVar Variation Id:
3069628
ClinVar RCV Id:
RCV004008172
dbSNP Id:
rs1566528546
gnomAD v2:
14-23890267-AG-A
gnomAD v4:
14-23421058-AG-A
MyVariant Identifiers:
chr14:g.23890268del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421060del , CM000676.2:g.23421060del | GRCh38 |
| NC_000014.8:g.23890269del , CM000676.1:g.23890269del | GRCh37 |
| NC_000014.7:g.22960109del | NCBI36 |
| NG_007884.1:g.19603del , LRG_384:g.19603del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3246-11del MANE Select | ENSP00000347507.3:n.3246-11del | |
| ENST00000355349.3:c.3246-11del | ENSP00000347507.3:n.3246-11del | |
| NM_000257.3:c.3246-11del | NP_000248.2:n.3246-11del | |
| XR_245686.3:n.3354-11del | ||
| XM_017021340.1:c.3246-11del | XP_016876829.1:n.3246-11del | |
| NM_000257.4:c.3246-11del MANE Select | NP_000248.2:n.3246-11del |