Linked Data
ClinVar Variation Id:
344099
ClinVar RCV Id:
RCV000386594
dbSNP Id:
rs886058157
gnomAD v2:
3-165548831-TGAAA-T
gnomAD v3:
3-165831043-TGAAA-T
gnomAD v4:
3-165831043-TGAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165831046_165831049del , CM000665.2:g.165831046_165831049del | GRCh38 |
| NC_000003.11:g.165548834_165548837del , CM000665.1:g.165548834_165548837del | GRCh37 |
| NC_000003.10:g.167031528_167031531del | NCBI36 |
| NG_009031.1:g.11419_11422del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.-8-6_-8-3del MANE Select | ENSP00000264381.3:n.-8-6_-8-3del | |
| ENST00000264381.7:c.-8-6_-8-3del | ENSP00000264381.3:n.-8-6_-8-3del | |
| ENST00000479451.5:c.107+6267_107+6270del | ENSP00000418325.1:n.107+6267_107+6270del | |
| ENST00000482958.1:c.-8-6_-8-3del | ENSP00000419804.1:n.-8-6_-8-3del | |
| ENST00000488954.1:c.107+6267_107+6270del | ENSP00000418504.1:n.107+6267_107+6270del | |
| ENST00000497011.5:c.-8-6_-8-3del | ENSP00000419505.1:n.-8-6_-8-3del | |
| NM_000055.2:c.-8-6_-8-3del | NP_000046.1:n.-8-6_-8-3del | |
| XM_005247685.1:c.116-6_116-3del | XP_005247742.1:n.116-6_116-3del | |
| NM_000055.3:c.-8-6_-8-3del | NP_000046.1:n.-8-6_-8-3del | |
| NR_137635.1:n.159+6267_159+6270del | ||
| NR_137636.1:n.160-6_160-3del | ||
| NM_000055.4:c.-8-6_-8-3del MANE Select | NP_000046.1:n.-8-6_-8-3del | |
| NR_137635.2:n.110+6267_110+6270del | ||
| NR_137636.2:n.111-6_111-3del |