Linked Data
dbSNP Id:
rs1234259828
gnomAD v2:
1-161559612-CA-C
gnomAD v3:
1-161589822-CA-C
gnomAD v4:
1-161589822-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161589823del , CM000663.2:g.161589823del | GRCh38 |
| NC_000001.10:g.161559613del , CM000663.1:g.161559613del | GRCh37 |
| NC_000001.9:g.159826237del | NCBI36 |
| NG_011982.1:g.13485del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699402.1:c.41-40792del | ENSP00000514363.1:n.41-40792del | |
| ENST00000699403.1:c.61+40545del | ENSP00000514364.1:n.61+40545del | |
| ENST00000465075.6:n.483+4del | ||
| ENST00000466542.6:c.391+4del | ENSP00000426627.1:n.391+4del | |
| ENST00000473530.6:n.572+4del | ||
| ENST00000473712.6:n.413+4del | ||
| ENST00000482226.2:n.370+4del | ||
| ENST00000496692.6:n.491del | ||
| ENST00000543859.5:c.388+4del | ENSP00000444663.2:n.388+4del | |
| ENST00000611236.1:c.388+4del | ENSP00000480953.1:n.388+4del | |
| NR_047648.1:n.490+4del |