Linked Data
dbSNP Id:
rs869168693
gnomAD v2:
6-1613002-CTTTT-C
gnomAD v3:
6-1612767-CTTTT-C
gnomAD v4:
6-1612767-CTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612769_1612772del , CM000668.2:g.1612769_1612772del | GRCh38 |
| NC_000006.11:g.1613004_1613007del , CM000668.1:g.1613004_1613007del | GRCh37 |
| NC_000006.10:g.1558003_1558006del | NCBI36 |
| NG_009368.1:g.7324_7327del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*662_*665del MANE Select | ENSP00000493906.1:n.*662_*665del | |
| ENST00000380874.3:c.*662_*665del | ENSP00000370256.2:n.*662_*665del | |
| NM_001453.2:c.2324_2327del | NP_001444.2:n.2324_2327del | |
| NM_001453.3:c.*662_*665del MANE Select | NP_001444.2:n.*662_*665del |