Linked Data
dbSNP Id:
rs1572774786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002311_21002312del , CM000664.2:g.21002311_21002312del | GRCh38 |
| NC_000002.11:g.21225183_21225184del , CM000664.1:g.21225183_21225184del | GRCh37 |
| NC_000002.10:g.21078688_21078689del | NCBI36 |
| NG_011793.1:g.46762_46763del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.13110_13111del MANE Select | ENSP00000233242.1:p.Gln4372ArgfsTer14 | |
| ENST00000616098.4:c.13108_13109del | ENSP00000477990.1:n.13108_13109del | |
| NM_000384.2:c.13110_13111del | NP_000375.2:p.Gln4372ArgfsTer14 | |
| XM_011532809.1:c.5870-3039_5870-3038del | XP_011531111.1:n.5870-3039_5870-3038del | |
| NM_000384.3:c.13110_13111del MANE Select | NP_000375.3:p.Gln4372ArgfsTer14 |