Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541453_232541456del , CM000664.2:g.232541453_232541456del | GRCh38 |
| NC_000002.11:g.233406163_233406166del , CM000664.1:g.233406163_233406166del | GRCh37 |
| NC_000002.10:g.233114407_233114410del | NCBI36 |
| NG_012954.1:g.6727_6730del | |
| NG_012954.2:g.6762_6765del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.430_433del MANE Select | ENSP00000498757.1:p.Ala144SerfsTer? | |
| ENST00000389492.3:c.350+742_350+745del | ENSP00000374143.3:n.350+742_350+745del | |
| ENST00000389494.7:c.430_433del | ENSP00000374145.3:p.Ala144SerfsTer? | |
| ENST00000485094.1:n.451_454del | ||
| NM_005199.4:c.430_433del | NP_005190.4:p.Ala144SerfsTer? | |
| NM_005199.5:c.430_433del MANE Select | NP_005190.4:p.Ala144SerfsTer? |