Linked Data
dbSNP Id:
rs1415388203
gnomAD v2:
15-91565557-A-AG
gnomAD v3:
15-91022327-A-AG
gnomAD v4:
15-91022327-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.91022333dup , CM000677.2:g.91022333dup | GRCh38 |
| NC_000015.9:g.91565563dup , CM000677.1:g.91565563dup | GRCh37 |
| NC_000015.8:g.89366567dup | NCBI36 |
| NG_012162.1:g.5276dup , LRG_884:g.5276dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.-79dup MANE Select | ENSP00000327650.4:n.-79dup | |
| ENST00000643536.1:c.-79dup | ENSP00000494429.1:n.-79dup | |
| ENST00000333371.7:c.-79dup | ENSP00000327650.3:n.-79dup | |
| ENST00000535906.1:c.-79dup | ENSP00000444053.1:n.-79dup | |
| ENST00000556096.6:n.276dup | ||
| ENST00000557358.1:n.269dup | ||
| ENST00000574755.5:c.-79dup | ENSP00000460413.1:n.-79dup | |
| NM_001289148.1:c.-79dup | NP_001276077.1:n.-79dup | |
| NM_001289149.1:c.-290dup | NP_001276078.1:n.-290dup | |
| NM_018668.4:c.-79dup , LRG_884t1:c.-79dup | NP_061138.3:n.-79dup | |
| XM_005254884.2:c.-79dup | XP_005254941.1:n.-79dup | |
| XM_005254887.1:c.-209dup | XP_005254944.1:n.-209dup | |
| XM_005254888.2:c.-79dup | XP_005254945.1:n.-79dup | |
| XM_011521448.1:c.-392dup | XP_011519750.1:n.-392dup | |
| XM_017022075.2:c.-440dup | XP_016877564.1:n.-440dup | |
| XM_017022076.1:c.-297dup | XP_016877565.1:n.-297dup | |
| XR_001751213.2:n.258dup | ||
| NM_018668.5:c.-79dup MANE Select | NP_061138.3:n.-79dup |