Linked Data
gnomAD v4:
3-138945767-G-GGCGGCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945776_138945783dup , CM000665.2:g.138945776_138945783dup | GRCh38 |
| NC_000003.11:g.138664618_138664625dup , CM000665.1:g.138664618_138664625dup | GRCh37 |
| NC_000003.10:g.140147308_140147315dup | NCBI36 |
| NG_012454.1:g.6366_6373dup | |
| NG_029796.1:g.3543_3550dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.948_955dup MANE Select | ENSP00000497217.1:p.Pro319ArgfsTer? | |
| ENST00000330315.3:c.948_955dup | ENSP00000333188.3:p.Pro319ArgfsTer? | |
| NM_023067.3:c.948_955dup | NP_075555.1:p.Pro319ArgfsTer? | |
| NM_023067.4:c.948_955dup MANE Select | NP_075555.1:p.Pro319ArgfsTer? |