Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135833044_135833045del , CM000664.2:g.135833044_135833045del | GRCh38 |
| NC_000002.11:g.136590614_136590615del , CM000664.1:g.136590614_136590615del | GRCh37 |
| NC_000002.10:g.136307084_136307085del | NCBI36 |
| NG_008104.2:g.27125_27126del , LRG_338:g.27125_27126del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.720+66_720+67del MANE Select | ENSP00000264162.2:n.720+66_720+67del | |
| ENST00000264162.6:c.720+66_720+67del | ENSP00000264162.2:n.720+66_720+67del | |
| NM_002299.2:c.720+66_720+67del , LRG_338t1:c.720+66_720+67del | NP_002290.2:n.720+66_720+67del | |
| NM_002299.3:c.720+66_720+67del | NP_002290.2:n.720+66_720+67del | |
| XM_017004088.2:c.720+66_720+67del | XP_016859577.1:n.720+66_720+67del | |
| NM_002299.4:c.720+66_720+67del MANE Select | NP_002290.2:n.720+66_720+67del |