Linked Data
dbSNP Id:
rs1751431908
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046570del , CM000667.2:g.136046570del | GRCh38 |
| NC_000005.9:g.135382259del , CM000667.1:g.135382259del | GRCh37 |
| NC_000005.8:g.135410158del | NCBI36 |
| NG_012646.1:g.22676del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.459+75del MANE Select | ENSP00000416330.2:n.459+75del | |
| ENST00000442011.6:c.459+75del | ENSP00000416330.2:n.459+75del | |
| ENST00000506699.5:n.599del | ||
| ENST00000507018.5:c.437+14del | ||
| ENST00000515433.1:n.826del | ||
| NM_000358.2:c.459+75del | NP_000349.1:n.459+75del | |
| NM_000358.3:c.459+75del MANE Select | NP_000349.1:n.459+75del |