Linked Data
dbSNP Id:
rs1373452259
gnomAD v2:
19-4090571-CGG-C
gnomAD v3:
19-4090573-CGG-C
gnomAD v4:
19-4090573-CGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090575_4090576del , CM000681.2:g.4090575_4090576del | GRCh38 |
| NC_000019.9:g.4090573_4090574del , CM000681.1:g.4090573_4090574del | GRCh37 |
| NC_000019.8:g.4041573_4041574del | NCBI36 |
| NG_007996.1:g.38554_38555del , LRG_750:g.38554_38555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1665_1666del | ||
| ENST00000688002.1:n.3377_3378del | ||
| ENST00000688751.1:n.362_363del | ||
| ENST00000689792.1:n.1130_1131del | ||
| ENST00000262948.10:c.*23_*24del MANE Select | ENSP00000262948.4:n.*23_*24del | |
| ENST00000262948.9:c.*23_*24del | ENSP00000262948.3:n.*23_*24del | |
| ENST00000394867.8:c.*23_*24del | ENSP00000378336.1:n.*23_*24del | |
| ENST00000597263.5:n.411_412del | ||
| ENST00000600584.5:n.2675_2676del | ||
| ENST00000601786.5:n.1527_1528del | ||
| NM_030662.3:c.*23_*24del , LRG_750t1:c.*23_*24del | NP_109587.1:n.*23_*24del | |
| XM_006722799.2:c.*23_*24del | XP_006722862.1:n.*23_*24del | |
| XM_011528133.1:c.*23_*24del | XP_011526435.1:n.*23_*24del | |
| NM_030662.4:c.*23_*24del MANE Select | NP_109587.1:n.*23_*24del |