Linked Data
dbSNP Id:
rs1349429710
gnomAD v2:
2-25054097-A-AT
gnomAD v3:
2-24831228-A-AT
gnomAD v4:
2-24831228-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24831230dup , CM000664.2:g.24831230dup | GRCh38 |
| NC_000002.11:g.25054099dup , CM000664.1:g.25054099dup | GRCh37 |
| NC_000002.10:g.24907603dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.2056-404dup | ENSP00000384484.2:n.2056-404dup | |
| ENST00000679454.1:c.2056-404dup MANE Select | ENSP00000505261.1:n.2056-404dup | |
| ENST00000260600.9:c.2056-404dup | ENSP00000260600.5:n.2056-404dup | |
| ENST00000405392.5:c.2056-404dup | ENSP00000384484.2:n.2056-404dup | |
| ENST00000450524.1:n.149-404dup | ||
| ENST00000455323.1:c.73-404dup | ENSP00000402008.1:n.73-404dup | |
| ENST00000606682.5:c.1135-404dup | ENSP00000475652.1:n.1135-404dup | |
| NM_004036.3:c.2056-404dup | NP_004027.2:n.2056-404dup | |
| XM_005264104.1:c.2056-404dup | XP_005264161.1:n.2056-404dup | |
| XM_005264105.1:c.2056-404dup | XP_005264162.1:n.2056-404dup | |
| XM_006711925.1:c.2122-404dup | XP_006711988.1:n.2122-404dup | |
| XM_011532489.1:c.2179-404dup | XP_011530791.1:n.2179-404dup | |
| XM_011532490.1:c.2179-404dup | XP_011530792.1:n.2179-404dup | |
| XM_011532491.1:c.2113-404dup | XP_011530793.1:n.2113-404dup | |
| XM_011532492.1:c.2179-404dup | XP_011530794.1:n.2179-404dup | |
| XM_011532493.1:c.2179-404dup | XP_011530795.1:n.2179-404dup | |
| XM_011532494.1:c.2122-404dup | XP_011530796.1:n.2122-404dup | |
| XM_011532495.1:c.1513-404dup | XP_011530797.1:n.1513-404dup | |
| XM_011532496.1:c.1456-404dup | XP_011530798.1:n.1456-404dup | |
| NM_001320613.1:c.2056-404dup | NP_001307542.1:n.2056-404dup | |
| NM_004036.4:c.2056-404dup | NP_004027.2:n.2056-404dup | |
| XM_011532492.2:c.2179-404dup | XP_011530794.1:n.2179-404dup | |
| XM_017003186.1:c.2122-404dup | XP_016858675.1:n.2122-404dup | |
| XM_017003187.1:c.2113-404dup | XP_016858676.1:n.2113-404dup | |
| XM_017003188.1:c.2179-404dup | XP_016858677.1:n.2179-404dup | |
| XM_017003189.1:c.2179-404dup | XP_016858678.1:n.2179-404dup | |
| XM_017003190.1:c.2056-404dup | XP_016858679.1:n.2056-404dup | |
| XM_017003191.1:c.1543-404dup | XP_016858680.1:n.1543-404dup | |
| XM_017003192.1:c.1333-404dup | XP_016858681.1:n.1333-404dup | |
| XM_017003193.1:c.1333-404dup | XP_016858682.1:n.1333-404dup | |
| NM_001320613.2:c.2056-404dup | NP_001307542.1:n.2056-404dup | |
| NM_001377128.1:c.2122-404dup | NP_001364057.1:n.2122-404dup | |
| NM_001377129.1:c.2056-404dup | NP_001364058.1:n.2056-404dup | |
| NM_001377130.1:c.2056-404dup | NP_001364059.1:n.2056-404dup | |
| NM_001377131.1:c.1333-404dup | NP_001364060.1:n.1333-404dup | |
| NM_001377132.1:c.2056-404dup | NP_001364061.1:n.2056-404dup | |
| NM_004036.5:c.2056-404dup MANE Select | NP_004027.2:n.2056-404dup |