Linked Data
ClinVar Variation Id:
824156
ClinVar RCV Id:
RCV003458220
dbSNP Id:
rs763525759
gnomAD v2:
16-2096132-TG-T
gnomAD v3:
16-2046131-TG-T
gnomAD v4:
16-2046131-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2046138del , CM000678.2:g.2046138del | GRCh38 |
| NC_000016.9:g.2096139del , CM000678.1:g.2096139del | GRCh37 |
| NC_000016.8:g.2036140del | NCBI36 |
| NG_005895.1:g.1833del , LRG_487:g.1833del | |
| NG_008412.1:g.6735del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651522.1:c.59del | ENSP00000498290.1:p.Pro20GlnfsTer12 | |
| ENST00000651570.2:c.350del MANE Select | ENSP00000498421.1:p.Pro117GlnfsTer12 | |
| ENST00000651583.1:c.305del | ENSP00000498821.1:p.Pro102GlnfsTer5 | |
| ENST00000219066.5:c.374del | ENSP00000219066.1:p.Pro125GlnfsTer12 | |
| ENST00000561841.1:c.270del | ||
| ENST00000562120.1:n.83del | ||
| ENST00000566380.5:c.313del | ||
| ENST00000568513.5:c.173+148del | ||
| NM_002528.5:c.374del | NP_002519.1:p.Pro125GlnfsTer12 | |
| XM_011522505.1:c.374del | XP_011520807.1:p.Pro125GlnfsTer5 | |
| NM_001318193.1:c.374del | NP_001305122.1:p.Pro125GlnfsTer5 | |
| NM_001318194.1:c.24+148del | NP_001305123.1:n.24+148del | |
| NM_002528.6:c.374del | NP_002519.1:p.Pro125GlnfsTer12 | |
| XM_017023253.1:c.374del | XP_016878742.1:p.Pro125GlnfsTer12 | |
| NM_001318193.2:c.350del | NP_001305122.2:p.Pro117GlnfsTer5 | |
| NM_002528.7:c.350del MANE Select | NP_002519.2:p.Pro117GlnfsTer12 | |
| NM_001318194.2:c.24+148del | NP_001305123.1:n.24+148del |