Linked Data
ClinVar Variation Id:
6829
dbSNP Id:
rs786200900
gnomAD v2:
19-39995942-CAT-C
gnomAD v3:
19-39505302-CAT-C
gnomAD v4:
19-39505302-CAT-C
PubMed:
PMID:10742114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39505303_39505304del , CM000681.2:g.39505303_39505304del | GRCh38 |
| NC_000019.9:g.39995943_39995944del , CM000681.1:g.39995943_39995944del | GRCh37 |
| NC_000019.8:g.44687783_44687784del | NCBI36 |
| NG_008256.1:g.11387_11388del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.945_946del MANE Select | ENSP00000348810.4:p.Ala317ArgfsTer17 | |
| ENST00000205143.4:c.945_946del | ENSP00000205143.3:p.Ala317ArgfsTer17 | |
| ENST00000356433.9:c.945_946del | ENSP00000348810.4:p.Ala317ArgfsTer17 | |
| ENST00000596614.5:c.410-1736_410-1735del | ENSP00000471688.1:n.410-1736_410-1735del | |
| ENST00000600437.1:n.1025_1026del | ||
| NM_016941.3:c.945_946del | NP_058637.1:p.Ala317ArgfsTer17 | |
| NM_203486.2:c.945_946del | NP_982353.1:p.Ala317ArgfsTer17 | |
| NM_016941.4:c.945_946del | NP_058637.1:p.Ala317ArgfsTer17 | |
| NM_203486.3:c.945_946del MANE Select | NP_982353.1:p.Ala317ArgfsTer17 |