Linked Data
dbSNP Id:
rs1387693146
gnomAD v2:
5-1414538-GA-G
gnomAD v3:
5-1414423-GA-G
gnomAD v4:
5-1414423-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414424del , CM000667.2:g.1414424del | GRCh38 |
| NC_000005.9:g.1414539del , CM000667.1:g.1414539del | GRCh37 |
| NC_000005.8:g.1467539del | NCBI36 |
| NG_015885.1:g.36005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+267del MANE Select | ENSP00000270349.9:n.1156+267del | |
| ENST00000270349.11:c.1156+267del | ENSP00000270349.9:n.1156+267del | |
| NM_001044.4:c.1156+267del | NP_001035.1:n.1156+267del | |
| NM_001044.5:c.1156+267del MANE Select | NP_001035.1:n.1156+267del |