Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135788110_135788112del , CM000664.2:g.135788110_135788112del | GRCh38 |
| NC_000002.11:g.136545680_136545682del , CM000664.1:g.136545680_136545682del | GRCh37 |
| NC_000002.10:g.136262150_136262152del | NCBI36 |
| NG_008104.2:g.72058_72060del , LRG_338:g.72058_72060del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.*212_*214del MANE Select | ENSP00000264162.2:n.*212_*214del | |
| ENST00000264162.6:c.*212_*214del | ENSP00000264162.2:n.*212_*214del | |
| NM_002299.2:c.*212_*214del , LRG_338t1:c.*212_*214del | NP_002290.2:n.*212_*214del | |
| NM_002299.3:c.*212_*214del | NP_002290.2:n.*212_*214del | |
| NM_002299.4:c.*212_*214del MANE Select | NP_002290.2:n.*212_*214del |