Linked Data
dbSNP Id:
rs1240506256
gnomAD v2:
8-37823208-CG-C
gnomAD v3:
8-37965690-CG-C
gnomAD v4:
8-37965690-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965694del , CM000670.2:g.37965694del | GRCh38 |
| NC_000008.10:g.37823212del , CM000670.1:g.37823212del | GRCh37 |
| NC_000008.9:g.37942369del | NCBI36 |
| NG_011936.1:g.5976del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.779del MANE Select | ENSP00000343782.3:p.Pro260ArgfsTer? | |
| ENST00000520341.2:n.907del | ||
| ENST00000647937.1:c.263del | ENSP00000497740.1:p.Pro88ArgfsTer? | |
| ENST00000345060.4:c.779del | ENSP00000343782.3:p.Pro260ArgfsTer? | |
| ENST00000520341.1:n.54del | ||
| ENST00000614635.1:c.779del | ENSP00000480325.1:p.Pro260ArgfsTer? | |
| NM_000025.2:c.779del | NP_000016.1:p.Pro260ArgfsTer? | |
| NM_000025.3:c.779del MANE Select | NP_000016.1:p.Pro260ArgfsTer? |