Linked Data
ClinVar Variation Id:
5568
dbSNP Id:
rs281865195
gnomAD v2:
17-6328870-GGGTGGCTCTGCA-G
gnomAD v3:
17-6425550-GGGTGGCTCTGCA-G
gnomAD v4:
17-6425550-GGGTGGCTCTGCA-G
MyVariant Identifiers:
chr17:g.6328871_6328882del (hg19)
chr17:g.6425552_6425563del (hg38)
chr17:g.6425551_6425562del (hg38)
PubMed:
PMID:10873396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425561_6425572del , CM000679.2:g.6425561_6425572del | GRCh38 |
| NC_000017.10:g.6328881_6328892del , CM000679.1:g.6328881_6328892del | GRCh37 |
| NC_000017.9:g.6269605_6269616del | NCBI36 |
| NG_008474.1:g.14638_14649del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.1053_1064del MANE Select | ENSP00000370521.3:p.Ala352_Pro355del | |
| ENST00000250087.9:c.864_875del | ENSP00000250087.5:p.Ala289_Pro292del | |
| ENST00000381128.2:c.*925_*936del | ENSP00000370520.2:n.*925_*936del | |
| ENST00000381129.7:c.1053_1064del | ENSP00000370521.3:p.Ala352_Pro355del | |
| ENST00000570466.5:c.987_998del | ENSP00000461287.1:p.Ala330_Pro333del | |
| ENST00000570584.5:c.251+8357_251+8368del | ||
| ENST00000574506.5:c.1017_1028del | ENSP00000458456.1:p.Ala340_Pro343del | |
| ENST00000575265.5:c.*1024_*1035del | ENSP00000459673.1:n.*1024_*1035del | |
| ENST00000576307.5:c.873_884del | ENSP00000459522.1:p.Ala292_Pro295del | |
| ENST00000576776.5:c.981_992del | ENSP00000460827.1:p.Ala328_Pro331del | |
| ENST00000621374.4:c.*71_*82del | ENSP00000481337.1:n.*71_*82del | |
| NM_001033054.2:c.864_875del | NP_001028226.1:p.Ala289_Pro292del | |
| NM_001033055.2:c.873_884del | NP_001028227.1:p.Ala292_Pro295del | |
| NM_001285399.2:c.1017_1028del | NP_001272328.1:p.Ala340_Pro343del | |
| NM_001285400.2:c.987_998del | NP_001272329.1:p.Ala330_Pro333del | |
| NM_001285401.2:c.981_992del | NP_001272330.1:p.Ala328_Pro331del | |
| NM_001285402.1:c.936_947del | NP_001272331.1:p.Ala313_Pro316del | |
| NM_014336.4:c.1053_1064del | NP_055151.3:p.Ala352_Pro355del | |
| NM_001033054.3:c.864_875del | NP_001028226.1:p.Ala289_Pro292del | |
| NM_001033055.3:c.873_884del | NP_001028227.1:p.Ala292_Pro295del | |
| NM_001285399.3:c.1017_1028del | NP_001272328.1:p.Ala340_Pro343del | |
| NM_001285400.3:c.987_998del | NP_001272329.1:p.Ala330_Pro333del | |
| NM_001285401.3:c.981_992del | NP_001272330.1:p.Ala328_Pro331del | |
| NM_001285402.2:c.936_947del | NP_001272331.1:p.Ala313_Pro316del | |
| NM_001285403.3:c.*1024_*1035del | NP_001272332.1:n.*1024_*1035del | |
| NM_014336.5:c.1053_1064del MANE Select | NP_055151.3:p.Ala352_Pro355del | |
| NM_001285403.4:c.*1024_*1035del | NP_001272332.1:n.*1024_*1035del |