Linked Data
dbSNP Id:
rs778897267
ExAC:
2:55908057 GT / G
gnomAD v2:
2-55908057-GT-G
gnomAD v4:
2-55680922-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55680923del , CM000664.2:g.55680923del | GRCh38 |
| NC_000002.11:g.55908058del , CM000664.1:g.55908058del | GRCh37 |
| NC_000002.10:g.55761562del | NCBI36 |
| NG_033012.1:g.17988del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.454-5del MANE Select | ENSP00000400646.2:n.454-5del | |
| ENST00000260604.8:c.454-5del | ENSP00000260604.4:n.454-5del | |
| ENST00000415374.5:c.454-5del | ENSP00000393953.1:n.454-5del | |
| ENST00000429805.1:c.*102-5del | ENSP00000411994.1:n.*102-5del | |
| ENST00000447944.6:c.454-5del | ENSP00000400646.2:n.454-5del | |
| NM_033109.4:c.454-5del | NP_149100.2:n.454-5del | |
| XM_005264629.1:c.214-5del | XP_005264686.1:n.214-5del | |
| XM_011533142.1:c.454-5del | XP_011531444.1:n.454-5del | |
| XM_005264629.2:c.214-5del | XP_005264686.1:n.214-5del | |
| XM_017005172.1:c.214-5del | XP_016860661.1:n.214-5del | |
| XR_001739010.1:n.484-5del | ||
| NM_033109.5:c.454-5del MANE Select | NP_149100.2:n.454-5del |