Linked Data
dbSNP Id:
rs1326130272
gnomAD v2:
4-154605479-C-CGTTCTCTCAGGTGACTGCTCGGA
gnomAD v3:
4-153684327-C-CGTTCTCTCAGGTGACTGCTCGGA
gnomAD v4:
4-153684327-C-CGTTCTCTCAGGTGACTGCTCGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153684334_153684356dup , CM000666.2:g.153684334_153684356dup | GRCh38 |
| NC_000004.11:g.154605486_154605508dup , CM000666.1:g.154605486_154605508dup | GRCh37 |
| NC_000004.10:g.154824936_154824958dup | NCBI36 |
| NG_016229.1:g.5046_5068dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643501.2:c.-399_-377dup | ENSP00000496208.2:n.-399_-377dup | |
| ENST00000646219.2:c.-473_-451dup | ENSP00000496676.2:n.-473_-451dup | |
| ENST00000646900.2:c.-174_-152dup | ENSP00000493968.2:n.-174_-152dup | |
| ENST00000642580.1:c.-115_-93dup | ENSP00000495339.1:n.-115_-93dup | |
| ENST00000642700.2:c.-189_-167dup MANE Select | ENSP00000494425.1:n.-189_-167dup | |
| ENST00000643501.1:c.-399_-377dup | ENSP00000496208.1:n.-399_-377dup | |
| ENST00000645889.1:n.45_67dup | ||
| ENST00000646219.1:c.-473_-451dup | ENSP00000496676.1:n.-473_-451dup | |
| ENST00000646900.1:c.-174_-152dup | ENSP00000493968.1:n.-174_-152dup | |
| NM_003264.3:c.-174_-152dup | NP_003255.2:n.-174_-152dup | |
| XM_005263194.2:c.-189_-167dup | XP_005263251.1:n.-189_-167dup | |
| XM_005263195.2:c.-115_-93dup | XP_005263252.1:n.-115_-93dup | |
| XM_005263196.2:c.-155_-133dup | XP_005263253.1:n.-155_-133dup | |
| XM_005263197.2:c.-130_-108dup | XP_005263254.1:n.-130_-108dup | |
| XM_011532215.1:c.-96_-74dup | XP_011530517.1:n.-96_-74dup | |
| XM_011532216.1:c.-43_-21dup | XP_011530518.1:n.-43_-21dup | |
| NM_001318787.1:c.-399_-377dup | NP_001305716.1:n.-399_-377dup | |
| NM_001318789.1:c.-189_-167dup | NP_001305718.1:n.-189_-167dup | |
| NM_001318790.1:c.-166_-163+19dup | ||
| NM_001318791.1:c.-155_-133dup | NP_001305720.1:n.-155_-133dup | |
| NM_001318793.1:c.-151_-148+19dup | ||
| NM_001318795.1:c.-130_-108dup | NP_001305724.1:n.-130_-108dup | |
| NM_001318796.1:c.-115_-93dup | NP_001305725.1:n.-115_-93dup | |
| NM_003264.4:c.-174_-152dup | NP_003255.2:n.-174_-152dup | |
| XM_011532215.2:c.-96_-74dup | XP_011530517.1:n.-96_-74dup | |
| XM_011532216.2:c.-43_-21dup | XP_011530518.1:n.-43_-21dup | |
| XM_017008573.1:c.-473_-451dup | XP_016864062.1:n.-473_-451dup | |
| XM_017008574.1:c.-324_-302dup | XP_016864063.1:n.-324_-302dup | |
| XM_017008575.1:c.-368_-346dup | XP_016864064.1:n.-368_-346dup | |
| NM_001318787.2:c.-399_-377dup | NP_001305716.1:n.-399_-377dup | |
| NM_001318789.2:c.-189_-167dup MANE Select | NP_001305718.1:n.-189_-167dup | |
| NM_001318790.2:c.-166_-163+19dup | ||
| NM_001318791.2:c.-155_-133dup | NP_001305720.1:n.-155_-133dup | |
| NM_001318793.2:c.-151_-148+19dup | ||
| NM_001318795.2:c.-130_-108dup | NP_001305724.1:n.-130_-108dup | |
| NM_001318796.2:c.-115_-93dup | NP_001305725.1:n.-115_-93dup | |
| NM_003264.5:c.-174_-152dup | NP_003255.2:n.-174_-152dup |