Linked Data
gnomAD v4:
17-8015742-G-GCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015742_8015743insCAT , CM000679.2:g.8015742_8015743insCAT | GRCh38 |
| NC_000017.10:g.7919060_7919061insCAT , CM000679.1:g.7919060_7919061insCAT | GRCh37 |
| NC_000017.9:g.7859785_7859786insCAT | NCBI36 |
| NG_009092.1:g.18073_18074insCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2945-1_2945insCAT MANE Select | ENSP00000254854.4:n.2945-1_2945insCAT | |
| ENST00000254854.4:c.2945-1_2945insCAT | ENSP00000254854.4:n.2945-1_2945insCAT | |
| NM_000180.3:c.2945-1_2945insCAT | NP_000171.1:n.2945-1_2945insCAT | |
| XM_011523816.1:c.2945-1_2945insCAT | XP_011522118.1:n.2945-1_2945insCAT | |
| NM_000180.4:c.2945-1_2945insCAT MANE Select | NP_000171.1:n.2945-1_2945insCAT |