Linked Data
dbSNP Id:
rs748728557
ExAC:
4:111026640 G / GA
gnomAD v2:
4-111026640-G-GA
gnomAD v4:
4-110105484-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110105491dup , CM000666.2:g.110105491dup | GRCh38 |
| NC_000004.11:g.111026647dup , CM000666.1:g.111026647dup | GRCh37 |
| NC_000004.10:g.111246096dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302274.8:c.221+12dup MANE Select | ENSP00000304736.3:n.221+12dup | |
| ENST00000302274.7:c.221+12dup | ENSP00000304736.3:n.221+12dup | |
| ENST00000394607.7:c.221+12dup | ENSP00000378105.3:n.221+12dup | |
| ENST00000503885.1:c.221+12dup | ENSP00000426086.1:n.221+12dup | |
| ENST00000506461.1:n.436+12dup | ||
| ENST00000506625.5:c.221+12dup | ENSP00000425488.1:n.221+12dup | |
| ENST00000514184.5:c.221+12dup | ENSP00000424023.1:n.221+12dup | |
| NM_001130721.1:c.221+12dup | NP_001124193.1:n.221+12dup | |
| NM_024090.2:c.221+12dup | NP_076995.1:n.221+12dup | |
| XM_011532233.1:c.221+12dup | XP_011530535.1:n.221+12dup | |
| XM_011532234.1:c.221+12dup | XP_011530536.1:n.221+12dup | |
| XM_011532235.1:c.-61+12dup | XP_011530537.1:n.-61+12dup | |
| XM_011532233.3:c.221+12dup | XP_011530535.1:n.221+12dup | |
| XM_011532234.3:c.221+12dup | XP_011530536.1:n.221+12dup | |
| NM_001130721.2:c.221+12dup | NP_001124193.1:n.221+12dup | |
| NM_024090.3:c.221+12dup MANE Select | NP_076995.1:n.221+12dup |