Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55091696_55091697delinsCA , CM000666.2:g.55091696_55091697delinsCA | GRCh38 |
| NC_000004.11:g.55957863_55957864delinsCA , CM000666.1:g.55957863_55957864delinsCA | GRCh37 |
| NC_000004.10:g.55652620_55652621delinsCA | NCBI36 |
| NG_012004.1:g.38899_38900delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3069+920_3069+921delinsTG MANE Select | ENSP00000263923.4:n.3069+920_3069+921delinsTG | |
| ENST00000647068.1:n.3082+920_3082+921delinsTG | ||
| ENST00000263923.4:c.3069+920_3069+921delinsTG | ENSP00000263923.4:n.3069+920_3069+921delinsTG | |
| NM_002253.2:c.3069+920_3069+921delinsTG | NP_002244.1:n.3069+920_3069+921delinsTG | |
| NM_002253.3:c.3069+920_3069+921delinsTG | NP_002244.1:n.3069+920_3069+921delinsTG | |
| NM_002253.4:c.3069+920_3069+921delinsTG MANE Select | NP_002244.1:n.3069+920_3069+921delinsTG |