Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647499_100647501del , CM000669.2:g.100647499_100647501del | GRCh38 |
| NC_000007.13:g.100245122_100245124del , CM000669.1:g.100245122_100245124del | GRCh37 |
| NC_000007.12:g.100083058_100083060del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016188.5:c.709_711del MANE Select | NP_057272.1:p.Lys237del |
| ENST00000160382.10:c.709_711del MANE Select | ENSP00000160382.5:p.Lys237del |
| NM_016188.4:c.709_711del | NP_057272.1:p.Lys237del |
| NR_134539.1:n.816_818del | |
| NR_134539.2:n.803_805del | |
| ENST00000160382.9:c.709_711del | ENSP00000160382.5:p.Lys237del |
| ENST00000487125.1:n.245_247del | |
| XR_927476.1:n.816_818del |