Linked Data
gnomAD v4:
3-49122844-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49122845_49122846del , CM000665.2:g.49122845_49122846del | GRCh38 |
| NC_000003.11:g.49160278_49160279del , CM000665.1:g.49160278_49160279del | GRCh37 |
| NC_000003.10:g.49135282_49135283del | NCBI36 |
| NG_008094.1:g.15321_15322del | |
| NG_054716.1:g.3093_3094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.4431_4432del MANE Select | ENSP00000307156.4:p.Ala1478Ter | |
| ENST00000305544.8:c.4431_4432del | ENSP00000307156.4:p.Ala1478Ter | |
| ENST00000418109.5:c.4431_4432del | ENSP00000388325.1:p.Ala1478Ter | |
| ENST00000469665.1:n.740_741del | ||
| NM_002292.3:c.4431_4432del | NP_002283.3:p.Ala1478Ter | |
| XM_005265127.3:c.4431_4432del | XP_005265184.1:p.Ala1478Ter | |
| XM_005265127.4:c.4431_4432del | XP_005265184.1:p.Ala1478Ter | |
| NM_002292.4:c.4431_4432del MANE Select | NP_002283.3:p.Ala1478Ter |