Linked Data
ClinVar Variation Id:
523047
dbSNP Id:
rs1424732031
gnomAD v3:
19-17830211-AG-A
gnomAD v4:
19-17830211-AG-A
MyVariant Identifiers:
chr19:g.17941021del (hg19)
chr19:g.17830213del (hg38)
chr19:g.17830212del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830213del , CM000681.2:g.17830213del | GRCh38 |
| NC_000019.9:g.17941022del , CM000681.1:g.17941022del | GRCh37 |
| NC_000019.8:g.17802022del | NCBI36 |
| NG_007273.1:g.22780del , LRG_77:g.22780del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1660del | ENSP00000513006.1:n.*1660del | |
| ENST00000696967.1:n.2280del | ||
| ENST00000696968.1:n.336del | ||
| ENST00000696969.1:n.2060del | ||
| ENST00000458235.7:c.3103del MANE Select | ENSP00000391676.1:p.Leu1035CysfsTer3 | |
| ENST00000458235.5:c.3103del | ENSP00000391676.1:p.Leu1035CysfsTer3 | |
| ENST00000527031.5:n.2279-4902del | ||
| ENST00000527670.5:c.3103del | ENSP00000432511.1:p.Leu1035CysfsTer3 | |
| ENST00000534444.1:c.3103del | ENSP00000436421.1:p.Leu1035CysfsTer3 | |
| NM_000215.3:c.3103del , LRG_77t1:c.3103del | NP_000206.2:p.Leu1035CysfsTer3 | |
| XM_005259896.2:c.3232del | XP_005259953.1:p.Leu1078CysfsTer3 | |
| XM_006722745.2:c.3103del | XP_006722808.1:p.Leu1035CysfsTer3 | |
| XM_005259896.3:c.3232del | XP_005259953.1:p.Leu1078CysfsTer3 | |
| NM_000215.4:c.3103del MANE Select | NP_000206.2:p.Leu1035CysfsTer3 |