Linked Data
dbSNP Id:
rs1048088666
gnomAD v2:
15-45772390-GC-G
gnomAD v3:
15-45480192-GC-G
gnomAD v4:
15-45480192-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45480193del , CM000677.2:g.45480193del | GRCh38 |
| NC_000015.9:g.45772391del , CM000677.1:g.45772391del | GRCh37 |
| NC_000015.8:g.43559683del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261867.5:c.*4970del MANE Select | ENSP00000261867.3:n.*4970del | |
| ENST00000261867.4:c.*4970del | ENSP00000261867.3:n.*4970del | |
| NM_013309.5:c.*4970del | NP_037441.2:n.*4970del | |
| NM_013309.6:c.*4970del MANE Select | NP_037441.2:n.*4970del |