Linked Data
dbSNP Id:
rs2057414985
gnomAD v3:
22-32474835-A-AGGGCGGCCACTGTGGCG
gnomAD v4:
22-32474835-A-AGGGCGGCCACTGTGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32474840_32474856dup , CM000684.2:g.32474840_32474856dup | GRCh38 |
| NC_000022.10:g.32870827_32870843dup , CM000684.1:g.32870827_32870843dup | GRCh37 |
| NC_000022.9:g.31200827_31200843dup | NCBI36 |
| NG_016001.1:g.5121_5137dup | |
| NG_016001.2:g.5121_5137dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.-163_-147dup MANE Select | ENSP00000266087.7:n.-163_-147dup | |
| ENST00000266087.11:c.-163_-147dup | ENSP00000266087.7:n.-163_-147dup | |
| ENST00000420700.5:c.-163_-147dup | ENSP00000406155.1:n.-163_-147dup | |
| ENST00000425028.5:c.-163_-147dup | ENSP00000395823.1:n.-163_-147dup | |
| NM_012179.3:c.-163_-147dup | NP_036311.3:n.-163_-147dup | |
| XM_011530106.1:c.-336_-320dup | XP_011528408.1:n.-336_-320dup | |
| XM_024452207.1:c.-353_-337dup | XP_024307975.1:n.-353_-337dup | |
| NM_012179.4:c.-163_-147dup MANE Select | NP_036311.3:n.-163_-147dup |