Linked Data
dbSNP Id:
rs1192722241
gnomAD v2:
4-68798005-GGGA-G
gnomAD v3:
4-67932287-GGGA-G
gnomAD v4:
4-67932287-GGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67932288_67932290del , CM000666.2:g.67932288_67932290del | GRCh38 |
| NC_000004.11:g.68798006_68798008del , CM000666.1:g.68798006_68798008del | GRCh37 |
| NC_000004.10:g.68480601_68480603del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508048.6:c.253-230_253-228del MANE Select | ENSP00000426911.2:n.253-230_253-228del | |
| ENST00000334830.11:c.262-230_262-228del | ENSP00000334611.7:n.262-230_262-228del | |
| ENST00000396188.3:c.253-230_253-228del | ENSP00000379491.3:n.253-230_253-228del | |
| ENST00000508048.5:c.253-230_253-228del | ENSP00000426911.2:n.253-230_253-228del | |
| ENST00000513536.5:c.193-230_193-228del | ENSP00000427621.1:n.193-230_193-228del | |
| NM_001114387.1:c.253-230_253-228del | NP_001107859.1:n.253-230_253-228del | |
| NM_182606.3:c.262-230_262-228del | NP_872412.3:n.262-230_262-228del | |
| NM_001114387.2:c.253-230_253-228del MANE Select | NP_001107859.1:n.253-230_253-228del | |
| NM_182606.4:c.262-230_262-228del | NP_872412.3:n.262-230_262-228del |