Linked Data
dbSNP Id:
rs551145449
gnomAD v2:
11-121357189-CTT-C
gnomAD v3:
11-121486480-CTT-C
gnomAD v4:
11-121486480-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121486496_121486497del , CM000673.2:g.121486496_121486497del | GRCh38 |
| NC_000011.9:g.121357205_121357206del , CM000673.1:g.121357205_121357206del | GRCh37 |
| NC_000011.8:g.120862415_120862416del | NCBI36 |
| NG_023313.1:g.39245_39246del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.529-1536_529-1535del MANE Select | ENSP00000260197.6:n.529-1536_529-1535del | |
| ENST00000260197.11:c.529-1536_529-1535del | ENSP00000260197.6:n.529-1536_529-1535del | |
| ENST00000532451.1:n.481-1536_481-1535del | ||
| NM_003105.5:c.529-1536_529-1535del | NP_003096.1:n.529-1536_529-1535del | |
| XM_011542963.1:c.529-1536_529-1535del | XP_011541265.1:n.529-1536_529-1535del | |
| XM_011542964.1:c.529-1536_529-1535del | XP_011541266.1:n.529-1536_529-1535del | |
| XM_011542963.3:c.529-1536_529-1535del | XP_011541265.1:n.529-1536_529-1535del | |
| XM_017018169.2:c.217-1536_217-1535del | XP_016873658.1:n.217-1536_217-1535del | |
| XM_017018170.2:c.3+39_3+40del | XP_016873659.1:n.3+39_3+40del | |
| XM_017018171.1:c.529-1536_529-1535del | XP_016873660.1:n.529-1536_529-1535del | |
| NM_003105.6:c.529-1536_529-1535del MANE Select | NP_003096.2:n.529-1536_529-1535del |