Linked Data
gnomAD v4:
3-138946019-CCCGCGGCTGCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946024_138946035del , CM000665.2:g.138946024_138946035del | GRCh38 |
| NC_000003.11:g.138664866_138664877del , CM000665.1:g.138664866_138664877del | GRCh37 |
| NC_000003.10:g.140147556_140147567del | NCBI36 |
| NG_012454.1:g.6110_6121del | |
| NG_029796.1:g.3791_3802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.692_703del MANE Select | ENSP00000497217.1:p.Ala231_Ala234del | |
| ENST00000330315.3:c.692_703del | ENSP00000333188.3:p.Ala231_Ala234del | |
| NM_023067.3:c.692_703del | NP_075555.1:p.Ala231_Ala234del | |
| NM_023067.4:c.692_703del MANE Select | NP_075555.1:p.Ala231_Ala234del |