Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20888311_20888315delinsTCACA , CM000684.2:g.20888311_20888315delinsTCACA | GRCh38 |
| NC_000022.10:g.21242599_21242603delinsTCACA , CM000684.1:g.21242599_21242603delinsTCACA | GRCh37 |
| NC_000022.9:g.19572599_19572603delinsTCACA | NCBI36 |
| NG_012152.1:g.34308_34312delinsTCACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.*475_*479delinsTCACA MANE Select | ENSP00000215730.6:n.*475_*479delinsTCACA | |
| ENST00000215730.11:c.*475_*479delinsTCACA | ENSP00000215730.6:n.*475_*479delinsTCACA | |
| NM_004782.3:c.*475_*479delinsTCACA | NP_004773.1:n.*475_*479delinsTCACA | |
| NM_004782.4:c.*475_*479delinsTCACA MANE Select | NP_004773.1:n.*475_*479delinsTCACA |