Linked Data
gnomAD v4:
3-138946027-T-TGCAGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946033_138946038dup , CM000665.2:g.138946033_138946038dup | GRCh38 |
| NC_000003.11:g.138664875_138664880dup , CM000665.1:g.138664875_138664880dup | GRCh37 |
| NC_000003.10:g.140147565_140147570dup | NCBI36 |
| NG_012454.1:g.6108_6113dup | |
| NG_029796.1:g.3800_3805dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.690_695dup MANE Select | ENSP00000497217.1:p.Ala232_Ala233insAlaAla | |
| ENST00000330315.3:c.690_695dup | ENSP00000333188.3:p.Ala232_Ala233insAlaAla | |
| NM_023067.3:c.690_695dup | NP_075555.1:p.Ala232_Ala233insAlaAla | |
| NM_023067.4:c.690_695dup MANE Select | NP_075555.1:p.Ala232_Ala233insAlaAla |