Linked Data
gnomAD v4:
3-138945760-C-CCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945760_138945761insCTG , CM000665.2:g.138945760_138945761insCTG | GRCh38 |
| NC_000003.11:g.138664602_138664603insCTG , CM000665.1:g.138664602_138664603insCTG | GRCh37 |
| NC_000003.10:g.140147292_140147293insCTG | NCBI36 |
| NG_012454.1:g.6380_6381insCAG | |
| NG_029796.1:g.3527_3528insCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.962_963insCAG MANE Select | ENSP00000497217.1:p.Gln321delinsHisArg | |
| ENST00000330315.3:c.962_963insCAG | ENSP00000333188.3:p.Gln321delinsHisArg | |
| NM_023067.3:c.962_963insCAG | NP_075555.1:p.Gln321delinsHisArg | |
| NM_023067.4:c.962_963insCAG MANE Select | NP_075555.1:p.Gln321delinsHisArg |