Linked Data
gnomAD v4:
4-41745914-TGGGGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745924_41745929del , CM000666.2:g.41745924_41745929del | GRCh38 |
| NC_000004.11:g.41747941_41747946del , CM000666.1:g.41747941_41747946del | GRCh37 |
| NC_000004.10:g.41442698_41442703del | NCBI36 |
| NG_008243.1:g.8051_8056del , LRG_513:g.8051_8056del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.832_837del MANE Select | ENSP00000226382.2:p.Gly278_Pro279del | |
| ENST00000226382.3:c.832_837del | ENSP00000226382.2:p.Gly278_Pro279del | |
| NM_003924.3:c.832_837del , LRG_513t1:c.832_837del | NP_003915.2:p.Gly278_Pro279del | |
| NM_003924.4:c.832_837del MANE Select | NP_003915.2:p.Gly278_Pro279del |