Linked Data
dbSNP Id:
rs1564077839
gnomAD v2:
9-104188850-TACTGGC-T
gnomAD v4:
9-101426568-TACTGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101426570_101426575del , CM000671.2:g.101426570_101426575del | GRCh38 |
| NC_000009.11:g.104188852_104188857del , CM000671.1:g.104188852_104188857del | GRCh37 |
| NC_000009.10:g.103228673_103228678del | NCBI36 |
| NG_012387.1:g.14207_14212del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.605_610del MANE Select | ENSP00000497767.1:p.Cys202_Gln203del | |
| ENST00000648064.1:c.605_610del | ENSP00000497990.1:p.Cys202_Gln203del | |
| ENST00000648758.1:c.605_610del | ENSP00000497731.1:p.Cys202_Gln203del | |
| ENST00000649902.1:c.605_610del | ENSP00000497216.1:p.Cys202_Gln203del | |
| ENST00000374855.8:c.605_610del | ENSP00000363988.4:p.Cys202_Gln203del | |
| ENST00000468981.3:n.132_137del | ||
| ENST00000616752.1:c.605_610del | ENSP00000481363.1:p.Cys202_Gln203del | |
| NM_000035.3:c.605_610del | NP_000026.2:p.Cys202_Gln203del | |
| NM_000035.4:c.605_610del MANE Select | NP_000026.2:p.Cys202_Gln203del |