Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028996_135028998del , CM000667.2:g.135028996_135028998del | GRCh38 |
| NC_000005.9:g.134364686_134364688del , CM000667.1:g.134364686_134364688del | GRCh37 |
| NC_000005.8:g.134392585_134392587del | NCBI36 |
| NG_012114.1:g.10282_10284del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.731_733del MANE Select | ENSP00000265340.6:p.Asn244del | |
| ENST00000265340.11:c.731_733del | ENSP00000265340.6:p.Asn244del | |
| ENST00000506438.5:c.731_733del | ENSP00000427542.1:p.Asn244del | |
| NM_002653.4:c.731_733del | NP_002644.4:p.Asn244del | |
| NM_002653.5:c.731_733del MANE Select | NP_002644.4:p.Asn244del |