Linked Data
dbSNP Id:
rs1894912520
gnomAD v3:
14-60644806-CTACATGAT-C
gnomAD v4:
14-60644806-CTACATGAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60644810_60644817del , CM000676.2:g.60644810_60644817del | GRCh38 |
| NC_000014.8:g.61111528_61111535del , CM000676.1:g.61111528_61111535del | GRCh37 |
| NC_000014.7:g.60181281_60181288del | NCBI36 |
| NG_008231.1:g.9624_9631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.*1469_*1476del MANE Select | ENSP00000494686.1:n.*1469_*1476del | |
| ENST00000247182.6:c.*1469_*1476del | ENSP00000247182.5:n.*1469_*1476del | |
| ENST00000554986.2:c.*1469_*1476del | ENSP00000452700.2:n.*1469_*1476del | |
| NM_005982.3:c.*1469_*1476del | NP_005973.1:n.*1469_*1476del | |
| XM_017021602.2:c.*1743_*1750del | XP_016877091.1:n.*1743_*1750del | |
| NM_005982.4:c.*1469_*1476del MANE Select | NP_005973.1:n.*1469_*1476del |