Linked Data
dbSNP Id:
rs1307208506
gnomAD v2:
14-23892693-CACAG-C
gnomAD v3:
14-23423484-CACAG-C
gnomAD v4:
14-23423484-CACAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423486_23423489del , CM000676.2:g.23423486_23423489del | GRCh38 |
| NC_000014.8:g.23892695_23892698del , CM000676.1:g.23892695_23892698del | GRCh37 |
| NC_000014.7:g.22962535_22962538del | NCBI36 |
| NG_007884.1:g.17174_17177del , LRG_384:g.17174_17177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3099+59_3099+62del MANE Select | ENSP00000347507.3:n.3099+59_3099+62del | |
| ENST00000355349.3:c.3099+59_3099+62del | ENSP00000347507.3:n.3099+59_3099+62del | |
| NM_000257.3:c.3099+59_3099+62del | NP_000248.2:n.3099+59_3099+62del | |
| XR_245686.3:n.3205+59_3205+62del | ||
| XM_017021340.1:c.3099+59_3099+62del | XP_016876829.1:n.3099+59_3099+62del | |
| NM_000257.4:c.3099+59_3099+62del MANE Select | NP_000248.2:n.3099+59_3099+62del |