Linked Data
dbSNP Id:
rs1783345517
gnomAD v3:
7-21559208-CTAGCAAACCCAT-C
gnomAD v4:
7-21559208-CTAGCAAACCCAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21559217_21559228del , CM000669.2:g.21559217_21559228del | GRCh38 |
| NC_000007.13:g.21598835_21598846del , CM000669.1:g.21598835_21598846del | GRCh37 |
| NC_000007.12:g.21565360_21565371del | NCBI36 |
| NG_012886.2:g.21003_21014del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.692+219_692+230del MANE Select | ENSP00000475939.1:n.692+219_692+230del | |
| ENST00000328843.10:c.692+219_692+230del | ENSP00000330671.7:n.692+219_692+230del | |
| ENST00000409508.7:c.692+219_692+230del | ENSP00000475939.1:n.692+219_692+230del | |
| ENST00000620169.4:c.692+219_692+230del | ENSP00000481693.1:n.692+219_692+230del | |
| NM_001277115.1:c.692+219_692+230del | NP_001264044.1:n.692+219_692+230del | |
| NM_001277115.2:c.692+219_692+230del MANE Select | NP_001264044.1:n.692+219_692+230del |