Linked Data
dbSNP Id:
rs1569536560
gnomAD v2:
X-115304776-GACTTT-G
gnomAD v3:
X-116173523-GACTTT-G
gnomAD v4:
X-116173523-GACTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.116173524_116173528del , CM000685.2:g.116173524_116173528del | GRCh38 |
| NC_000023.10:g.115304777_115304781del , CM000685.1:g.115304777_115304781del | GRCh37 |
| NC_000023.9:g.115218805_115218809del | NCBI36 |
| NG_016326.1:g.7820_7824del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371906.5:c.*152_*156del MANE Select | ENSP00000360973.4:n.*152_*156del | |
| ENST00000371906.4:c.*152_*156del | ENSP00000360973.4:n.*152_*156del | |
| NM_000686.4:c.*152_*156del | NP_000677.2:n.*152_*156del | |
| XM_011537533.1:c.*152_*156del | XP_011535835.1:n.*152_*156del | |
| NM_000686.5:c.*152_*156del MANE Select | NP_000677.2:n.*152_*156del | |
| NM_001385624.1:c.*152_*156del | NP_001372553.1:n.*152_*156del |