Linked Data
dbSNP Id:
rs892014881
gnomAD v2:
4-142005527-CT-C
gnomAD v3:
4-141084373-CT-C
gnomAD v4:
4-141084373-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141084378del , CM000666.2:g.141084378del | GRCh38 |
| NC_000004.11:g.142005532del , CM000666.1:g.142005532del | GRCh37 |
| NC_000004.10:g.142224982del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506101.2:c.-101+47951del | ENSP00000425947.2:n.-101+47951del | |
| ENST00000515673.7:c.484+47951del MANE Select | ENSP00000425840.1:n.484+47951del | |
| ENST00000306799.7:c.484+47951del | ENSP00000304321.3:n.484+47951del | |
| ENST00000420921.6:c.-5-30643del | ENSP00000394581.2:n.-5-30643del | |
| ENST00000507500.5:c.484+47951del | ENSP00000425568.1:n.484+47951del | |
| ENST00000515673.6:c.484+47951del | ENSP00000425840.1:n.484+47951del | |
| NM_020724.1:c.484+47951del | NP_065775.1:n.484+47951del | |
| XM_005263150.3:c.485-30643del | XP_005263207.1:n.485-30643del | |
| XM_011532147.1:c.34+25500del | XP_011530449.1:n.34+25500del | |
| XM_011532148.1:c.-5-30643del | XP_011530450.1:n.-5-30643del | |
| XM_005263150.5:c.485-30643del | XP_005263207.1:n.485-30643del | |
| XM_011532147.2:c.34+25500del | XP_011530449.1:n.34+25500del | |
| XM_011532148.3:c.-5-30643del | XP_011530450.1:n.-5-30643del | |
| XM_017008475.1:c.34+25500del | XP_016863964.1:n.34+25500del | |
| NM_020724.2:c.484+47951del MANE Select | NP_065775.1:n.484+47951del |