Linked Data
ClinVar Variation Id:
2732161
ClinVar RCV Id:
RCV003593241
dbSNP Id:
rs776250086
ExAC:
19:38990638 CTG / C
gnomAD v2:
19-38990638-CTG-C
gnomAD v4:
19-38499998-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38500001_38500002del , CM000681.2:g.38500001_38500002del | GRCh38 |
| NC_000019.9:g.38990641_38990642del , CM000681.1:g.38990641_38990642del | GRCh37 |
| NC_000019.8:g.43682481_43682482del | NCBI36 |
| NG_008866.1:g.71302_71303del , LRG_766:g.71302_71303del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7308_7309del | ENSP00000471601.2:p.Ala2437ThrfsTer12 | |
| ENST00000359596.8:c.7308_7309del MANE Select | ENSP00000352608.2:p.Ala2437ThrfsTer12 | |
| ENST00000355481.8:c.7308_7309del | ENSP00000347667.3:p.Ala2437ThrfsTer12 | |
| ENST00000359596.7:c.7308_7309del | ENSP00000352608.2:p.Ala2437ThrfsTer12 | |
| ENST00000360985.7:c.7305_7306del | ENSP00000354254.4:p.Ala2436ThrfsTer12 | |
| ENST00000594335.5:c.760_761del | ||
| NM_000540.2:c.7308_7309del , LRG_766t1:c.7308_7309del | NP_000531.2:p.Ala2437ThrfsTer12 | |
| NM_001042723.1:c.7308_7309del | NP_001036188.1:p.Ala2437ThrfsTer12 | |
| XM_006723317.1:c.7308_7309del | XP_006723380.1:p.Ala2437ThrfsTer12 | |
| XM_006723319.1:c.7308_7309del | XP_006723382.1:p.Ala2437ThrfsTer12 | |
| XM_011527204.1:c.7305_7306del | XP_011525506.1:p.Ala2436ThrfsTer12 | |
| XM_011527205.1:c.7308_7309del | XP_011525507.1:p.Ala2437ThrfsTer12 | |
| XM_006723317.2:c.7308_7309del | XP_006723380.1:p.Ala2437ThrfsTer12 | |
| XM_006723319.2:c.7308_7309del | XP_006723382.1:p.Ala2437ThrfsTer12 | |
| XM_011527205.2:c.7308_7309del | XP_011525507.1:p.Ala2437ThrfsTer12 | |
| XR_001753735.1:n.7391_7392del | ||
| NM_000540.3:c.7308_7309del MANE Select | NP_000531.2:p.Ala2437ThrfsTer12 | |
| NM_001042723.2:c.7308_7309del | NP_001036188.1:p.Ala2437ThrfsTer12 |