Linked Data
dbSNP Id:
rs1751432070
gnomAD v3:
5-136046574-GAGTCTGC-G
gnomAD v4:
5-136046574-GAGTCTGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046579_136046585del , CM000667.2:g.136046579_136046585del | GRCh38 |
| NC_000005.9:g.135382268_135382274del , CM000667.1:g.135382268_135382274del | GRCh37 |
| NC_000005.8:g.135410167_135410173del | NCBI36 |
| NG_012646.1:g.22685_22691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.459+84_459+90del MANE Select | ENSP00000416330.2:n.459+84_459+90del | |
| ENST00000442011.6:c.459+84_459+90del | ENSP00000416330.2:n.459+84_459+90del | |
| ENST00000506699.5:n.608_614del | ||
| ENST00000507018.5:c.437+23_437+29del | ||
| ENST00000515433.1:n.835_841del | ||
| NM_000358.2:c.459+84_459+90del | NP_000349.1:n.459+84_459+90del | |
| NM_000358.3:c.459+84_459+90del MANE Select | NP_000349.1:n.459+84_459+90del |