Linked Data
gnomAD v3:
12-122175184-T-TCTTTCTTTCTTTCTTTC
gnomAD v4:
12-122175184-T-TCTTTCTTTCTTTCTTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.122175184_122175185insCTTTCTTTCTTTCTTTC , CM000674.2:g.122175184_122175185insCTTTCTTTCTTTCTTTC | GRCh38 |
| NC_000012.11:g.122659731_122659732insCTTTCTTTCTTTCTTTC , CM000674.1:g.122659731_122659732insCTTTCTTTCTTTCTTTC | GRCh37 |
| NC_000012.10:g.121225684_121225685insCTTTCTTTCTTTCTTTC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537729.5:c.-406+7402_-406+7403insCTTTCTTTCTTTCTTTC (LRRC43) | ENSP00000438751.1:n.-406+7402_-406+7403insCTTTCTTTCTTTCTTTC | |
| NM_152759.4:c.-406+7402_-406+7403insCTTTCTTTCTTTCTTTC (LRRC43) | NP_689972.3:n.-406+7402_-406+7403insCTTTCTTTCTTTCTTTC | |
| XM_011538326.1:c.-65-948_-65-947insGAAAGAAAGAAAGAAAG (IL31) | XP_011536628.1:n.-65-948_-65-947insGAAAGAAAGAAAGAAAG | |
| NM_152759.5:c.-406+7402_-406+7403insCTTTCTTTCTTTCTTTC (LRRC43) | NP_689972.3:n.-406+7402_-406+7403insCTTTCTTTCTTTCTTTC |