Linked Data
dbSNP Id:
rs1566528961
gnomAD v2:
13-20763621-TA-T
gnomAD v3:
13-20189482-TA-T
gnomAD v4:
13-20189482-TA-T
MyVariant Identifiers:
chr13:g.20763622del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189484del , CM000675.2:g.20189484del | GRCh38 |
| NC_000013.10:g.20763623del , CM000675.1:g.20763623del | GRCh37 |
| NC_000013.9:g.19661623del | NCBI36 |
| NG_008358.1:g.8493del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.99del | ENSP00000372295.1:p.Met34Ter | |
| ENST00000382848.5:c.99del MANE Select | ENSP00000372299.4:p.Met34Ter | |
| ENST00000382844.1:c.99del | ENSP00000372295.1:p.Met34Ter | |
| ENST00000382848.4:c.99del | ENSP00000372299.4:p.Met34Ter | |
| NM_004004.5:c.99del | NP_003995.2:p.Met34Ter | |
| XM_011535049.1:c.99del | XP_011533351.1:p.Met34Ter | |
| XM_011535049.2:c.99del | XP_011533351.1:p.Met34Ter | |
| NM_004004.6:c.99del MANE Select | NP_003995.2:p.Met34Ter |