Linked Data
ClinVar Variation Id:
21418
ClinVar RCV Id:
RCV000020603
dbSNP Id:
rs80338753
gnomAD v3:
2-169169726-CCAAA-C
gnomAD v4:
2-169169726-CCAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169169729_169169732del , CM000664.2:g.169169729_169169732del | GRCh38 |
| NC_000002.11:g.170026239_170026242del , CM000664.1:g.170026239_170026242del | GRCh37 |
| NC_000002.10:g.169734485_169734488del | NCBI36 |
| NG_012634.1:g.197883_197886del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649046.1:c.11469_11472del MANE Select | ENSP00000496870.1:p.Cys3823TrpfsTer? | |
| ENST00000649153.1:c.2369_2372del | ||
| ENST00000650252.1:c.501_504del | ENSP00000496887.1:p.Cys167TrpfsTer? | |
| ENST00000263816.7:c.11469_11472del | ENSP00000263816.3:p.Cys3823TrpfsTer? | |
| NM_004525.2:c.11469_11472del | NP_004516.2:p.Cys3823TrpfsTer? | |
| XM_011511183.1:c.11340_11343del | XP_011509485.1:p.Cys3780TrpfsTer? | |
| XM_011511184.1:c.9180_9183del | XP_011509486.1:p.Cys3060TrpfsTer? | |
| NM_004525.3:c.11469_11472del MANE Select | NP_004516.2:p.Cys3823TrpfsTer? | |
| XM_011511183.3:c.11340_11343del | XP_011509485.1:p.Cys3780TrpfsTer? | |
| XM_011511184.2:c.9180_9183del | XP_011509486.1:p.Cys3060TrpfsTer? |