Linked Data
dbSNP Id:
rs1567263337
gnomAD v2:
16-1497343-C-T
gnomAD v4:
16-1447342-C-T
MyVariant Identifiers:
chr16:g.1497343_1497346delinsTCTG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1447342C>T , CM000678.2:g.1447342C>T | GRCh38 |
| NC_000016.9:g.1497343C>T , CM000678.1:g.1497343C>T | GRCh37 |
| NC_000016.8:g.1437344C>T | NCBI36 |
| NG_007567.1:g.32743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.2250+50G>A | ENSP00000514703.1:n.2250+50G>A | |
| ENST00000699948.1:c.*563+50G>A | ENSP00000514704.1:n.*563+50G>A | |
| ENST00000382745.9:c.2250+50G>A MANE Select | ENSP00000372193.4:n.2250+50G>A | |
| ENST00000262318.12:c.2182+46G>A | ENSP00000262318.8:n.2182+46G>A | |
| ENST00000382745.8:c.2250+50G>A | ENSP00000372193.4:n.2250+50G>A | |
| ENST00000448525.5:c.2178+50G>A | ENSP00000410907.1:n.2178+50G>A | |
| ENST00000563642.6:n.2319+50G>A | ||
| ENST00000565092.6:n.1285+50G>A | ||
| ENST00000567836.2:n.491+50G>A | ||
| NM_001114331.2:c.2178+50G>A | NP_001107803.1:n.2178+50G>A | |
| NM_001287.5:c.2250+50G>A | NP_001278.1:n.2250+50G>A | |
| XM_011522354.1:c.2076+50G>A | XP_011520656.1:n.2076+50G>A | |
| NM_001287.6:c.2250+50G>A MANE Select | NP_001278.1:n.2250+50G>A | |
| NM_001114331.3:c.2178+50G>A | NP_001107803.1:n.2178+50G>A |