Linked Data
dbSNP Id:
rs1262691688
gnomAD v2:
4-55991171-TC-T
gnomAD v3:
4-55125004-TC-T
gnomAD v4:
4-55125004-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55125006del , CM000666.2:g.55125006del | GRCh38 |
| NC_000004.11:g.55991173del , CM000666.1:g.55991173del | GRCh37 |
| NC_000004.10:g.55685930del | NCBI36 |
| NG_012004.1:g.5591del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.67+222del MANE Select | ENSP00000263923.4:n.67+222del | |
| ENST00000263923.4:c.67+222del | ENSP00000263923.4:n.67+222del | |
| ENST00000512566.1:n.67+222del | ||
| NM_002253.2:c.67+222del | NP_002244.1:n.67+222del | |
| NM_002253.3:c.67+222del | NP_002244.1:n.67+222del | |
| NM_002253.4:c.67+222del MANE Select | NP_002244.1:n.67+222del |