Linked Data
dbSNP Id:
rs2056761750
gnomAD v3:
19-47003913-GACACGCACACACACACAC-G
gnomAD v4:
19-47003913-GACACGCACACACACACAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003918_47003935del , CM000681.2:g.47003918_47003935del | GRCh38 |
| NC_000019.9:g.47507175_47507192del , CM000681.1:g.47507175_47507192del | GRCh37 |
| NC_000019.8:g.52199015_52199032del | NCBI36 |
| NG_047014.1:g.90352_90369del | |
| NG_047014.2:g.147922_147939del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7730_7747del | ENSP00000385720.2:n.7730_7747del | |
| ENST00000672722.1:c.*3230_*3247del MANE Select | ENSP00000500409.1:n.*3230_*3247del | |
| ENST00000404338.7:c.7730_7747del | ENSP00000385720.2:n.7730_7747del | |
| ENST00000614079.1:c.7307_7324del | ENSP00000483730.1:n.7307_7324del | |
| NM_004491.4:c.7730_7747del | NP_004482.4:n.7730_7747del | |
| NM_004491.5:c.*3230_*3247del MANE Select | NP_004482.4:n.*3230_*3247del |