Linked Data
dbSNP Id:
rs1174897981
gnomAD v2:
14-29237879-CGGGACTGTCTGG-C
gnomAD v4:
14-28768673-CGGGACTGTCTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768685_28768696del , CM000676.2:g.28768685_28768696del | GRCh38 |
| NC_000014.8:g.29237891_29237902del , CM000676.1:g.29237891_29237902del | GRCh37 |
| NC_000014.7:g.28307642_28307653del | NCBI36 |
| NG_009367.1:g.6605_6616del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.1406_1417del | ENSP00000516406.1:p.Gly469_Ser472del | |
| ENST00000313071.7:c.1406_1417del MANE Select | ENSP00000339004.3:p.Gly469_Ser472del | |
| ENST00000313071.6:c.1406_1417del | ENSP00000339004.3:p.Gly469_Ser472del | |
| NM_005249.4:c.1406_1417del | NP_005240.3:p.Gly469_Ser472del | |
| NM_005249.5:c.1406_1417del MANE Select | NP_005240.3:p.Gly469_Ser472del |