Linked Data
dbSNP Id:
rs121912752
gnomAD v2:
17-42328631-TCAC-T
gnomAD v4:
17-44251263-TCAC-T
PubMed:
PMID:10926824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251268_44251270del , CM000679.2:g.44251268_44251270del | GRCh38 |
| NC_000017.10:g.42328636_42328638del , CM000679.1:g.42328636_42328638del | GRCh37 |
| NC_000017.9:g.39684162_39684164del | NCBI36 |
| NG_007498.1:g.21869_21871del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.2548_2550del MANE Select | ENSP00000262418.6:p.Val850del | |
| ENST00000262418.10:c.2548_2550del | ENSP00000262418.6:p.Val850del | |
| ENST00000399246.3:c.1450_1452del | ENSP00000382190.3:p.Val484del | |
| NM_000342.3:c.2548_2550del | NP_000333.1:p.Val850del | |
| XM_005257593.3:c.2353_2355del | XP_005257650.1:p.Val785del | |
| XM_011525129.1:c.2458_2460del | XP_011523431.1:p.Val820del | |
| XM_005257593.5:c.2353_2355del | XP_005257650.1:p.Val785del | |
| XM_011525129.2:c.2458_2460del | XP_011523431.1:p.Val820del | |
| NM_000342.4:c.2548_2550del MANE Select | NP_000333.1:p.Val850del |