Linked Data
dbSNP Id:
rs1892606861
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424318_23424319del , CM000676.2:g.23424318_23424319del | GRCh38 |
| NC_000014.8:g.23893527_23893528del , CM000676.1:g.23893527_23893528del | GRCh37 |
| NC_000014.7:g.22963367_22963368del | NCBI36 |
| NG_007884.1:g.16343_16344del , LRG_384:g.16343_16344del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2680-170_2680-169del MANE Select | ENSP00000347507.3:n.2680-170_2680-169del | |
| ENST00000355349.3:c.2680-170_2680-169del | ENSP00000347507.3:n.2680-170_2680-169del | |
| NM_000257.3:c.2680-170_2680-169del | NP_000248.2:n.2680-170_2680-169del | |
| XR_245686.3:n.2786-170_2786-169del | ||
| XM_017021340.1:c.2680-170_2680-169del | XP_016876829.1:n.2680-170_2680-169del | |
| NM_000257.4:c.2680-170_2680-169del MANE Select | NP_000248.2:n.2680-170_2680-169del |