Linked Data
ClinVar Variation Id:
2742061
ClinVar RCV Id:
RCV003509227
dbSNP Id:
rs1186260423
gnomAD v4:
4-52028109-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028115del , CM000666.2:g.52028115del | GRCh38 |
| NC_000004.11:g.52894281del , CM000666.1:g.52894281del | GRCh37 |
| NC_000004.10:g.52589038del | NCBI36 |
| NG_008891.1:g.15210del , LRG_204:g.15210del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.622-11del MANE Select | ENSP00000370839.6:n.622-11del | |
| ENST00000381431.9:c.622-11del | ENSP00000370839.5:n.622-11del | |
| NM_000232.4:c.622-11del , LRG_204t1:c.622-11del | NP_000223.1:n.622-11del | |
| XM_006714049.2:c.325-11del | XP_006714112.1:n.325-11del | |
| XM_011534403.1:c.412-11del | XP_011532705.1:n.412-11del | |
| XM_011534404.1:c.325-11del | XP_011532706.1:n.325-11del | |
| NM_000232.5:c.622-11del MANE Select | NP_000223.1:n.622-11del |