Linked Data
ClinVar Variation Id:
419532
dbSNP Id:
rs1064793935
gnomAD v3:
22-26616148-TC-T
gnomAD v4:
22-26616148-TC-T
PubMed:
PMID:17460281
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26616151del , CM000684.2:g.26616151del | GRCh38 |
| NC_000022.10:g.27012115del , CM000684.1:g.27012115del | GRCh37 |
| NC_000022.9:g.25342115del | NCBI36 |
| NG_009826.1:g.6879del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647684.1:c.171del (CRYBB1) MANE Select | ENSP00000497249.1:p.Asn58ThrfsTer? | |
| ENST00000215939.2:c.171del (CRYBB1) | ENSP00000215939.2:p.Asn58ThrfsTer? | |
| NM_001887.3:c.171del (CRYBB1) | NP_001878.1:p.Asn58ThrfsTer? | |
| XM_006724140.2:c.4-6434del (CRYBA4) | XP_006724203.1:n.4-6434del | |
| XM_011529898.1:c.24-5757del (CRYBA4) | XP_011528200.1:n.24-5757del | |
| XM_011529899.1:c.171del (CRYBB1) | XP_011528201.1:p.Asn58ThrfsTer? | |
| NM_001887.4:c.171del (CRYBB1) MANE Select | NP_001878.1:p.Asn58ThrfsTer? | |
| XM_006724140.3:c.4-6434del (CRYBA4) | XP_006724203.1:n.4-6434del | |
| XM_011529899.3:c.171del (CRYBB1) | XP_011528201.1:p.Asn58ThrfsTer? |