Linked Data
gnomAD v4:
7-21880863-C-CCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21880865_21880866insGCT , CM000669.2:g.21880865_21880866insGCT | GRCh38 |
| NC_000007.13:g.21920483_21920484insGCT , CM000669.1:g.21920483_21920484insGCT | GRCh37 |
| NC_000007.12:g.21887008_21887009insGCT | NCBI36 |
| NG_012886.2:g.342651_342652insGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.12359_12360insGCT MANE Select | ENSP00000475939.1:p.Leu4120_Tyr4121insLeu | |
| ENST00000328843.10:c.12380_12381insGCT | ENSP00000330671.7:p.Leu4127_Tyr4128insLeu | |
| ENST00000409508.7:c.12359_12360insGCT | ENSP00000475939.1:p.Leu4120_Tyr4121insLeu | |
| ENST00000620169.4:c.12380_12381insGCT | ENSP00000481693.1:p.Leu4127_Tyr4128insLeu | |
| NM_001277115.1:c.12359_12360insGCT | NP_001264044.1:p.Leu4120_Tyr4121insLeu | |
| NM_001277115.2:c.12359_12360insGCT MANE Select | NP_001264044.1:p.Leu4120_Tyr4121insLeu |