Linked Data
dbSNP Id:
rs142576582
gnomAD v2:
6-12296592-GGA-G
gnomAD v3:
6-12296359-GGA-G
gnomAD v4:
6-12296359-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.12296371_12296372del , CM000668.2:g.12296371_12296372del | GRCh38 |
| NC_000006.11:g.12296604_12296605del , CM000668.1:g.12296604_12296605del | GRCh37 |
| NC_000006.10:g.12404590_12404591del | NCBI36 |
| NG_016196.1:g.11076_11077del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379375.6:c.*304_*305del MANE Select | ENSP00000368683.5:n.*304_*305del | |
| ENST00000379375.5:c.*304_*305del | ENSP00000368683.5:n.*304_*305del | |
| NM_001168319.1:c.*304_*305del | NP_001161791.1:n.*304_*305del | |
| NM_001955.4:c.*304_*305del | NP_001946.3:n.*304_*305del | |
| XM_011514330.1:c.*304_*305del | XP_011512632.1:n.*304_*305del | |
| XM_011514331.1:c.*304_*305del | XP_011512633.1:n.*304_*305del | |
| XM_011514332.1:c.*304_*305del | XP_011512634.1:n.*304_*305del | |
| XM_011514330.2:c.*304_*305del | XP_011512632.1:n.*304_*305del | |
| XM_011514331.3:c.*304_*305del | XP_011512633.1:n.*304_*305del | |
| XM_011514332.2:c.*304_*305del | XP_011512634.1:n.*304_*305del | |
| XM_017010331.1:c.*304_*305del | XP_016865820.1:n.*304_*305del | |
| NM_001955.5:c.*304_*305del MANE Select | NP_001946.3:n.*304_*305del | |
| NM_001168319.2:c.*304_*305del | NP_001161791.1:n.*304_*305del |