Linked Data
ClinVar Variation Id:
1054206
ClinVar RCV Id:
RCV001362672
dbSNP Id:
rs1209319873
gnomAD v2:
16-1560992-TG-T
gnomAD v4:
16-1510991-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510993del , CM000678.2:g.1510993del | GRCh38 |
| NC_000016.9:g.1560994del , CM000678.1:g.1560994del | GRCh37 |
| NC_000016.8:g.1500995del | NCBI36 |
| NG_032783.1:g.106117del | |
| NG_050910.1:g.22650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4341del MANE Select | ENSP00000406012.2:p.Arg1448GlyfsTer? | |
| ENST00000361339.9:c.1923del | ENSP00000354895.5:p.Arg642GlyfsTer? | |
| ENST00000397417.6:c.*2779del | ENSP00000380562.2:n.*2779del | |
| ENST00000426508.6:c.4341del | ENSP00000406012.2:p.Arg1448GlyfsTer? | |
| ENST00000565298.5:n.4165del | ||
| NM_014714.3:c.4341del | NP_055529.2:p.Arg1448GlyfsTer? | |
| XM_006720989.2:c.4341del | XP_006721052.1:p.Arg1448GlyfsTer? | |
| XM_006720990.2:c.4341del | XP_006721053.1:p.Arg1448GlyfsTer? | |
| XM_006720991.2:c.4341del | XP_006721054.1:p.Arg1448GlyfsTer? | |
| XM_006720992.2:c.1974del | XP_006721055.1:p.Arg659GlyfsTer? | |
| XM_011522766.1:c.4095del | XP_011521068.1:p.Arg1366GlyfsTer? | |
| XM_011522767.1:c.3366del | XP_011521069.1:p.Arg1123GlyfsTer? | |
| XM_006720990.3:c.4341del | XP_006721053.1:p.Arg1448GlyfsTer? | |
| XM_006720991.3:c.4341del | XP_006721054.1:p.Arg1448GlyfsTer? | |
| XM_006720992.3:c.1974del | XP_006721055.1:p.Arg659GlyfsTer? | |
| XM_011522766.3:c.4095del | XP_011521068.1:p.Arg1366GlyfsTer? | |
| XM_011522767.2:c.3366del | XP_011521069.1:p.Arg1123GlyfsTer? | |
| XM_017023910.1:c.4341del | XP_016879399.1:p.Arg1448GlyfsTer? | |
| XM_017023911.1:c.2526del | XP_016879400.1:p.Arg843GlyfsTer? | |
| NM_014714.4:c.4341del MANE Select | NP_055529.2:p.Arg1448GlyfsTer? |