Linked Data
dbSNP Id:
rs1737048473
gnomAD v3:
4-177442176-A-AGCGGGGCGG
gnomAD v4:
4-177442176-A-AGCGGGGCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442179_177442187dup , CM000666.2:g.177442179_177442187dup | GRCh38 |
| NC_000004.11:g.178363333_178363341dup , CM000666.1:g.178363333_178363341dup | GRCh37 |
| NC_000004.10:g.178600327_178600335dup | NCBI36 |
| NG_011845.2:g.5319_5327dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.127+64_127+72dup MANE Select | ENSP00000264595.2:n.127+64_127+72dup | |
| ENST00000264595.6:c.127+64_127+72dup | ENSP00000264595.2:n.127+64_127+72dup | |
| ENST00000506853.5:n.161+64_161+72dup | ||
| ENST00000510955.5:n.161+64_161+72dup | ||
| ENST00000511231.1:n.161+64_161+72dup | ||
| NM_000027.3:c.127+64_127+72dup | NP_000018.2:n.127+64_127+72dup | |
| NM_001171988.1:c.127+64_127+72dup | NP_001165459.1:n.127+64_127+72dup | |
| NR_033655.1:n.255+64_255+72dup | ||
| XM_006714123.2:c.127+64_127+72dup | XP_006714186.1:n.127+64_127+72dup | |
| XR_001741155.2:n.221+64_221+72dup | ||
| NM_000027.4:c.127+64_127+72dup MANE Select | NP_000018.2:n.127+64_127+72dup | |
| NM_001171988.2:c.127+64_127+72dup | NP_001165459.1:n.127+64_127+72dup | |
| NR_033655.2:n.189+64_189+72dup |