Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523790_232523791insA , CM000664.2:g.232523790_232523791insA | GRCh38 |
| NC_000002.11:g.233388500_233388501insA , CM000664.1:g.233388500_233388501insA | GRCh37 |
| NC_000002.10:g.233096744_233096745insA | NCBI36 |
| NG_008028.1:g.2579_2580insA | |
| NG_031969.1:g.8328_8329insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1031_1032insA MANE Select | ENSP00000479745.1:p.Ser345GlnfsTer? | |
| ENST00000449534.6:c.1034_1035insA | ENSP00000473410.1:p.Ser346GlnfsTer? | |
| ENST00000617714.1:c.1031_1032insA | ENSP00000479745.1:p.Ser345GlnfsTer? | |
| NM_001195129.1:c.1031_1032insA | NP_001182058.1:p.Ser345GlnfsTer? | |
| NM_001195129.2:c.1031_1032insA MANE Select | NP_001182058.1:p.Ser345GlnfsTer? | |
| NM_001369848.1:c.1034_1035insA | NP_001356777.1:p.Ser346GlnfsTer? |