Linked Data
ClinVar Variation Id:
55944
ClinVar RCV Id:
RCV000049353
dbSNP Id:
rs386833425
gnomAD v3:
4-177439593-AGTGT-A
gnomAD v4:
4-177439593-AGTGT-A
PubMed:
PMID:11309371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439600_177439603del , CM000666.2:g.177439600_177439603del | GRCh38 |
| NC_000004.11:g.178360754_178360757del , CM000666.1:g.178360754_178360757del | GRCh37 |
| NC_000004.10:g.178597748_178597751del | NCBI36 |
| NG_011845.2:g.7907_7910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.373_376del MANE Select | ENSP00000264595.2:p.Thr125PhefsTer2 | |
| ENST00000264595.6:c.373_376del | ENSP00000264595.2:p.Thr125PhefsTer2 | |
| ENST00000502310.5:c.28_31del | ENSP00000423798.1:p.Thr10PhefsTer2 | |
| ENST00000506853.5:n.407_410del | ||
| ENST00000510635.1:c.69_72del | ||
| ENST00000510955.5:n.315+676_315+679del | ||
| NM_000027.3:c.373_376del | NP_000018.2:p.Thr125PhefsTer2 | |
| NM_001171988.1:c.373_376del | NP_001165459.1:p.Thr125PhefsTer2 | |
| NR_033655.1:n.501_504del | ||
| XM_006714123.2:c.373_376del | XP_006714186.1:p.Thr125PhefsTer2 | |
| XR_001741155.2:n.467_470del | ||
| NM_000027.4:c.373_376del MANE Select | NP_000018.2:p.Thr125PhefsTer2 | |
| NM_001171988.2:c.373_376del | NP_001165459.1:p.Thr125PhefsTer2 | |
| NR_033655.2:n.435_438del |