ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920779_51920780del , CM000674.2:g.51920779_51920780del | GRCh38 |
| NC_000012.11:g.52314563_52314564del , CM000674.1:g.52314563_52314564del | GRCh37 |
| NC_000012.10:g.50600830_50600831del | NCBI36 |
| NG_009549.1:g.18362_18363del , LRG_543:g.18362_18363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1128_1129del | ENSP00000446724.2:p.Gln376HisfsTer27 | |
| ENST00000551576.6:c.1398_1399del | ENSP00000455848.2:p.Gln466HisfsTer27 | |
| ENST00000388922.9:c.1398_1399del MANE Select | ENSP00000373574.4:p.Gln466HisfsTer27 | |
| ENST00000388922.8:c.1398_1399del | ENSP00000373574.4:p.Gln466HisfsTer27 | |
| ENST00000419526.6:c.876_877del | ENSP00000392492.2:p.Gln292HisfsTer27 | |
| ENST00000550683.5:c.1440_1441del | ENSP00000447884.1:p.Gln480HisfsTer27 | |
| NM_000020.2:c.1398_1399del , LRG_543t1:c.1398_1399del | NP_000011.2:p.Gln466HisfsTer27 | |
| NM_001077401.1:c.1398_1399del | NP_001070869.1:p.Gln466HisfsTer27 | |
| XM_005269235.2:c.1398_1399del | XP_005269292.1:p.Gln466HisfsTer27 | |
| XM_011539008.1:c.1128_1129del | XP_011537310.1:p.Gln376HisfsTer27 | |
| XM_024449279.1:c.609_610del | XP_024305047.1:p.Gln203HisfsTer27 | |
| NM_000020.3:c.1398_1399del MANE Select | NP_000011.2:p.Gln466HisfsTer27 | |
| NM_001077401.2:c.1398_1399del | NP_001070869.1:p.Gln466HisfsTer27 |