Linked Data
dbSNP Id:
rs1372588095
gnomAD v3:
16-1461244-CCCACTGTCTCTAGAAA-C
gnomAD v4:
16-1461244-CCCACTGTCTCTAGAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1461248_1461263del , CM000678.2:g.1461248_1461263del | GRCh38 |
| NC_000016.9:g.1511249_1511264del , CM000678.1:g.1511249_1511264del | GRCh37 |
| NC_000016.8:g.1451250_1451265del | NCBI36 |
| NG_007567.1:g.18825_18840del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.351+145_351+160del | ENSP00000514703.1:n.351+145_351+160del | |
| ENST00000699948.1:c.351+145_351+160del | ENSP00000514704.1:n.351+145_351+160del | |
| ENST00000699950.1:n.303+145_303+160del | ||
| ENST00000382745.9:c.351+145_351+160del MANE Select | ENSP00000372193.4:n.351+145_351+160del | |
| ENST00000262318.12:c.279+145_279+160del | ENSP00000262318.8:n.279+145_279+160del | |
| ENST00000382745.8:c.351+145_351+160del | ENSP00000372193.4:n.351+145_351+160del | |
| ENST00000448525.5:c.279+145_279+160del | ENSP00000410907.1:n.279+145_279+160del | |
| ENST00000561665.5:n.381+145_381+160del | ||
| ENST00000564568.1:c.246+145_246+160del | ENSP00000454845.1:n.246+145_246+160del | |
| ENST00000567139.1:n.402+145_402+160del | ||
| ENST00000569851.6:c.177+145_177+160del | ENSP00000461009.1:n.177+145_177+160del | |
| NM_001114331.2:c.279+145_279+160del | NP_001107803.1:n.279+145_279+160del | |
| NM_001287.5:c.351+145_351+160del | NP_001278.1:n.351+145_351+160del | |
| XM_011522354.1:c.177+145_177+160del | XP_011520656.1:n.177+145_177+160del | |
| NM_001287.6:c.351+145_351+160del MANE Select | NP_001278.1:n.351+145_351+160del | |
| NM_001114331.3:c.279+145_279+160del | NP_001107803.1:n.279+145_279+160del |