Linked Data
dbSNP Id:
rs1397898194
gnomAD v2:
4-178363281-A-AGGCCCGGCCC
gnomAD v3:
4-177442127-A-AGGCCCGGCCC
gnomAD v4:
4-177442127-A-AGGCCCGGCCC
MyVariant Identifiers:
chr4:g.178363281_178363282insGGCCCGGCCC (hg19)
chr4:g.177442127_177442128insGGCCCGGCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442128_177442137dup , CM000666.2:g.177442128_177442137dup | GRCh38 |
| NC_000004.11:g.178363282_178363291dup , CM000666.1:g.178363282_178363291dup | GRCh37 |
| NC_000004.10:g.178600276_178600285dup | NCBI36 |
| NG_011845.2:g.5367_5376dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.127+112_127+121dup MANE Select | ENSP00000264595.2:n.127+112_127+121dup | |
| ENST00000264595.6:c.127+112_127+121dup | ENSP00000264595.2:n.127+112_127+121dup | |
| ENST00000506853.5:n.161+112_161+121dup | ||
| ENST00000510955.5:n.161+112_161+121dup | ||
| ENST00000511231.1:n.161+112_161+121dup | ||
| NM_000027.3:c.127+112_127+121dup | NP_000018.2:n.127+112_127+121dup | |
| NM_001171988.1:c.127+112_127+121dup | NP_001165459.1:n.127+112_127+121dup | |
| NR_033655.1:n.255+112_255+121dup | ||
| XM_006714123.2:c.127+112_127+121dup | XP_006714186.1:n.127+112_127+121dup | |
| XR_001741155.2:n.221+112_221+121dup | ||
| NM_000027.4:c.127+112_127+121dup MANE Select | NP_000018.2:n.127+112_127+121dup | |
| NM_001171988.2:c.127+112_127+121dup | NP_001165459.1:n.127+112_127+121dup | |
| NR_033655.2:n.189+112_189+121dup |