Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180089_15180090del , CM000681.2:g.15180089_15180090del | GRCh38 |
| NC_000019.9:g.15290900_15290901del , CM000681.1:g.15290900_15290901del | GRCh37 |
| NC_000019.8:g.15151900_15151901del | NCBI36 |
| NG_009819.1:g.25896_25897del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3313_3314del MANE Select | ENSP00000263388.1:p.Gly1105LeufsTer4 | |
| ENST00000263388.6:c.3313_3314del | ENSP00000263388.1:p.Gly1105LeufsTer4 | |
| ENST00000601011.1:c.3154_3155del | ENSP00000473138.1:p.Gly1052LeufsTer4 | |
| NM_000435.2:c.3313_3314del | NP_000426.2:p.Gly1105LeufsTer4 | |
| XM_005259924.3:c.3157_3158del | XP_005259981.1:p.Gly1053LeufsTer4 | |
| XM_005259924.4:c.3157_3158del | XP_005259981.1:p.Gly1053LeufsTer4 | |
| NM_000435.3:c.3313_3314del MANE Select | NP_000426.2:p.Gly1105LeufsTer4 |