Linked Data
gnomAD v2:
14-23892702-CTGG-C
gnomAD v3:
14-23423493-CTGG-C
gnomAD v4:
14-23423493-CTGG-C
MyVariant Identifiers:
chr14:g.23892703_23892706delinsG (hg19)
chr14:g.23423494_23423497delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423494_23423496del , CM000676.2:g.23423494_23423496del | GRCh38 |
| NC_000014.8:g.23892703_23892705del , CM000676.1:g.23892703_23892705del | GRCh37 |
| NC_000014.7:g.22962543_22962545del | NCBI36 |
| NG_007884.1:g.17166_17168del , LRG_384:g.17166_17168del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3099+51_3099+53del MANE Select | ENSP00000347507.3:n.3099+51_3099+53del | |
| ENST00000355349.3:c.3099+51_3099+53del | ENSP00000347507.3:n.3099+51_3099+53del | |
| NM_000257.3:c.3099+51_3099+53del | NP_000248.2:n.3099+51_3099+53del | |
| XR_245686.3:n.3205+51_3205+53del | ||
| XM_017021340.1:c.3099+51_3099+53del | XP_016876829.1:n.3099+51_3099+53del | |
| NM_000257.4:c.3099+51_3099+53del MANE Select | NP_000248.2:n.3099+51_3099+53del |