Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448251_172448254delinsCGAA , CM000665.2:g.172448251_172448254delinsCGAA | GRCh38 |
| NC_000003.11:g.172166041_172166044delinsCGAA , CM000665.1:g.172166041_172166044delinsCGAA | GRCh37 |
| NC_000003.10:g.173648735_173648738delinsCGAA | NCBI36 |
| NG_021159.1:g.5203_5206delinsTTCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.160_163delinsTTCG MANE Select | ENSP00000241256.2:p.Phe54= | |
| ENST00000241256.2:c.160_163delinsTTCG | ENSP00000241256.2:p.Phe54= | |
| ENST00000427970.1:c.160_163delinsTTCG | ENSP00000395344.1:p.Phe54= | |
| NM_004122.2:c.160_163delinsTTCG | NP_004113.1:p.Phe54= | |
| NM_198407.2:c.160_163delinsTTCG MANE Select | NP_940799.1:p.Phe54= |