Linked Data
gnomAD v4:
15-42958185-A-ACGACCACCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958185_42958186insCGACCACCG , CM000677.2:g.42958185_42958186insCGACCACCG | GRCh38 |
| NC_000015.9:g.43250383_43250384insCGACCACCG , CM000677.1:g.43250383_43250384insCGACCACCG | GRCh37 |
| NC_000015.8:g.41037675_41037676insCGACCACCG | NCBI36 |
| NG_012182.1:g.152903_152904insCGGTGGTCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4758-96_4758-95insCGGTGGTCG MANE Select | ENSP00000290650.4:n.4758-96_4758-95insCGGTGGTCG | |
| ENST00000290650.8:c.4758-96_4758-95insCGGTGGTCG | ENSP00000290650.4:n.4758-96_4758-95insCGGTGGTCG | |
| NM_174916.2:c.4758-96_4758-95insCGGTGGTCG | NP_777576.1:n.4758-96_4758-95insCGGTGGTCG | |
| NM_174916.3:c.4758-96_4758-95insCGGTGGTCG MANE Select | NP_777576.1:n.4758-96_4758-95insCGGTGGTCG |