Linked Data
dbSNP Id:
rs201426920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52224356_52224361del , CM000665.2:g.52224356_52224361del | GRCh38 |
| NC_000003.11:g.52258372_52258377del , CM000665.1:g.52258372_52258377del | GRCh37 |
| NC_000003.10:g.52233412_52233417del | NCBI36 |
| NG_033933.1:g.6806_6811del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360658.3:c.4-46_4-41del MANE Select | ENSP00000353874.2:n.4-46_4-41del | |
| ENST00000360658.2:c.4-46_4-41del | ENSP00000353874.2:n.4-46_4-41del | |
| ENST00000478201.1:c.223-91_223-86del | ||
| ENST00000494383.1:c.464-46_464-41del | ||
| NM_017442.3:c.4-46_4-41del | NP_059138.1:n.4-46_4-41del | |
| NM_017442.4:c.4-46_4-41del MANE Select | NP_059138.1:n.4-46_4-41del |