Linked Data
ClinVar Variation Id:
31659
ClinVar RCV Id:
RCV000024352
dbSNP Id:
rs587776907
ExAC:
4:57351003 GCA / G
gnomAD v2:
4-57351003-GCA-G
gnomAD v3:
4-56484837-GCA-G
gnomAD v4:
4-56484837-GCA-G
MyVariant Identifiers:
chr4:g.57351008_57351009del (hg19)
chr4:g.57351004_57351005del (hg19)
chr4:g.56484842_56484843del (hg38)
chr4:g.56484838_56484839del (hg38)
PubMed:
PMID:22541560
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56484842_56484843del , CM000666.2:g.56484842_56484843del | GRCh38 |
| NC_000004.11:g.57351008_57351009del , CM000666.1:g.57351008_57351009del | GRCh37 |
| NC_000004.10:g.57045765_57045766del | NCBI36 |
| NG_032796.1:g.22247_22248del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505314.2:c.832_833del | ||
| ENST00000510663.6:c.881_882del | ENSP00000424576.1:p.Thr294LysfsTer19 | |
| ENST00000642900.1:c.1064_1065del MANE Select | ENSP00000495128.1:p.Thr355LysfsTer19 | |
| ENST00000342756.9:c.1064_1065del | ENSP00000342181.5:p.Thr355LysfsTer19 | |
| ENST00000505314.1:c.498_499del | ||
| ENST00000510663.5:c.881_882del | ENSP00000424576.1:p.Thr294LysfsTer19 | |
| NM_001267722.1:c.881_882del | NP_001254651.1:p.Thr294LysfsTer19 | |
| NM_006947.3:c.1064_1065del | NP_008878.3:p.Thr355LysfsTer19 | |
| XM_005265765.3:c.1064_1065del | XP_005265822.2:p.Thr355LysfsTer19 | |
| NM_006947.4:c.1064_1065del MANE Select | NP_008878.3:p.Thr355LysfsTer19 | |
| NR_151856.1:n.1104_1105del | ||
| XM_024454192.1:c.1064_1065del | XP_024309960.1:p.Thr355LysfsTer19 | |
| NM_001267722.2:c.881_882del | NP_001254651.1:p.Thr294LysfsTer19 | |
| NR_151856.2:n.1083_1084del |