Linked Data
ClinVar Variation Id:
804387
ClinVar RCV Id:
RCV000991366
dbSNP Id:
rs778989224
ExAC:
2:113514392 CTTTG / C
gnomAD v2:
2-113514392-CTTTG-C
gnomAD v4:
2-112756815-CTTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112756823_112756826del , CM000664.2:g.112756823_112756826del | GRCh38 |
| NC_000002.11:g.113514400_113514403del , CM000664.1:g.113514400_113514403del | GRCh37 |
| NC_000002.10:g.113230871_113230874del | NCBI36 |
| NG_041820.1:g.12859_12862del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.552_555del MANE Select | ENSP00000305204.6:p.Asn184LysfsTer8 | |
| ENST00000302450.10:c.552_555del | ENSP00000305204.6:p.Asn184LysfsTer8 | |
| ENST00000435431.5:c.478+74_478+77del | ENSP00000414834.1:n.478+74_478+77del | |
| ENST00000481732.5:n.513_516del | ||
| NM_001304361.1:c.57_60del | NP_001291290.1:p.Asn19LysfsTer8 | |
| NM_152515.4:c.552_555del | NP_689728.3:p.Asn184LysfsTer8 | |
| NR_130712.1:n.557+74_557+77del | ||
| XM_011510666.1:c.57_60del | XP_011508968.1:p.Asn19LysfsTer8 | |
| XM_011510666.2:c.57_60del | XP_011508968.1:p.Asn19LysfsTer8 | |
| NM_152515.5:c.552_555del MANE Select | NP_689728.3:p.Asn184LysfsTer8 | |
| NM_001304361.2:c.57_60del | NP_001291290.1:p.Asn19LysfsTer8 | |
| NR_130712.2:n.489+74_489+77del |