Linked Data
dbSNP Id:
rs1195516972
gnomAD v2:
7-6431845-G-GAAC
gnomAD v3:
7-6392214-G-GAAC
gnomAD v4:
7-6392214-G-GAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.6392214_6392215insAAC , CM000669.2:g.6392214_6392215insAAC | GRCh38 |
| NC_000007.13:g.6431845_6431846insAAC , CM000669.1:g.6431845_6431846insAAC | GRCh37 |
| NC_000007.12:g.6398370_6398371insAAC | NCBI36 |
| NG_029431.1:g.22720_22721insAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696666.1:n.586_587insAAC | ||
| ENST00000704002.1:c.324+173_324+174insAAC | ENSP00000515615.1:n.324+173_324+174insAAC | |
| ENST00000704003.1:c.*178+173_*178+174insAAC | ENSP00000515616.1:n.*178+173_*178+174insAAC | |
| ENST00000348035.9:c.225+173_225+174insAAC MANE Select | ENSP00000258737.7:n.225+173_225+174insAAC | |
| ENST00000348035.8:c.225+173_225+174insAAC | ENSP00000258737.7:n.225+173_225+174insAAC | |
| ENST00000356142.4:c.225+173_225+174insAAC | ENSP00000348461.4:n.225+173_225+174insAAC | |
| ENST00000488373.5:n.456+173_456+174insAAC | ||
| ENST00000497741.5:n.241+173_241+174insAAC | ||
| NM_006908.4:c.225+173_225+174insAAC | NP_008839.2:n.225+173_225+174insAAC | |
| NM_018890.3:c.225+173_225+174insAAC | NP_061485.1:n.225+173_225+174insAAC | |
| NM_006908.5:c.225+173_225+174insAAC MANE Select | NP_008839.2:n.225+173_225+174insAAC | |
| NM_018890.4:c.225+173_225+174insAAC | NP_061485.1:n.225+173_225+174insAAC |