Linked Data
dbSNP Id:
rs1265603768
gnomAD v3:
5-96785651-G-GTTGT
gnomAD v4:
5-96785651-G-GTTGT
MyVariant Identifiers:
chr5:g.96121355_96121356insTTGT (hg19)
chr5:g.96785651_96785652insTTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96785653_96785656dup , CM000667.2:g.96785653_96785656dup | GRCh38 |
| NC_000005.9:g.96121357_96121360dup , CM000667.1:g.96121357_96121360dup | GRCh37 |
| NC_000005.8:g.96147113_96147116dup | NCBI36 |
| NG_027839.1:g.33490_33493dup | |
| NG_027839.2:g.155329_155332dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.1943+133_1943+136dup MANE Select | ENSP00000406304.2:n.1943+133_1943+136dup | |
| ENST00000296754.7:c.1943+133_1943+136dup | ENSP00000296754.3:n.1943+133_1943+136dup | |
| ENST00000443439.6:c.1943+133_1943+136dup | ENSP00000406304.2:n.1943+133_1943+136dup | |
| ENST00000507859.1:n.739_742dup | ||
| ENST00000514604.5:n.367+133_367+136dup | ||
| NM_001040458.1:c.1943+133_1943+136dup | NP_001035548.1:n.1943+133_1943+136dup | |
| NM_001198541.1:c.1943+133_1943+136dup | NP_001185470.1:n.1943+133_1943+136dup | |
| NM_016442.3:c.1943+133_1943+136dup | NP_057526.3:n.1943+133_1943+136dup | |
| XM_005272015.3:c.1943+133_1943+136dup | XP_005272072.1:n.1943+133_1943+136dup | |
| XM_005272016.3:c.1943+133_1943+136dup | XP_005272073.1:n.1943+133_1943+136dup | |
| XM_011543480.1:c.1943+133_1943+136dup | XP_011541782.1:n.1943+133_1943+136dup | |
| XM_011543481.1:c.1943+133_1943+136dup | XP_011541783.1:n.1943+133_1943+136dup | |
| XM_011543482.1:c.1943+133_1943+136dup | XP_011541784.1:n.1943+133_1943+136dup | |
| XM_011543483.1:c.1943+133_1943+136dup | XP_011541785.1:n.1943+133_1943+136dup | |
| XM_011543484.1:c.1943+133_1943+136dup | XP_011541786.1:n.1943+133_1943+136dup | |
| XM_011543485.1:c.1943+133_1943+136dup | XP_011541787.1:n.1943+133_1943+136dup | |
| XM_011543486.1:c.1943+133_1943+136dup | XP_011541788.1:n.1943+133_1943+136dup | |
| XM_011543487.1:c.1943+133_1943+136dup | XP_011541789.1:n.1943+133_1943+136dup | |
| XR_427744.2:n.421_424dup | ||
| XR_948592.1:n.737_740dup | ||
| XR_948593.1:n.1045_1048dup | ||
| XR_948594.1:n.719_722dup | ||
| XR_948595.1:n.729_732dup | ||
| NM_001040458.2:c.1943+133_1943+136dup | NP_001035548.1:n.1943+133_1943+136dup | |
| NM_001198541.2:c.1943+133_1943+136dup | NP_001185470.1:n.1943+133_1943+136dup | |
| NM_001349244.1:c.1943+133_1943+136dup | NP_001336173.1:n.1943+133_1943+136dup | |
| NM_016442.4:c.1943+133_1943+136dup | NP_057526.3:n.1943+133_1943+136dup | |
| XM_005272015.5:c.1943+133_1943+136dup | XP_005272072.1:n.1943+133_1943+136dup | |
| XM_005272016.4:c.1943+133_1943+136dup | XP_005272073.1:n.1943+133_1943+136dup | |
| XM_011543480.2:c.1943+133_1943+136dup | XP_011541782.1:n.1943+133_1943+136dup | |
| XM_011543481.2:c.1943+133_1943+136dup | XP_011541783.1:n.1943+133_1943+136dup | |
| XM_011543484.2:c.1943+133_1943+136dup | XP_011541786.1:n.1943+133_1943+136dup | |
| XM_011543485.2:c.1943+133_1943+136dup | XP_011541787.1:n.1943+133_1943+136dup | |
| XM_011543486.3:c.1943+133_1943+136dup | XP_011541788.1:n.1943+133_1943+136dup | |
| XM_017009581.1:c.1943+133_1943+136dup | XP_016865070.1:n.1943+133_1943+136dup | |
| XM_017009583.2:c.848+133_848+136dup | XP_016865072.1:n.848+133_848+136dup | |
| XM_024446113.1:c.1943+133_1943+136dup | XP_024301881.1:n.1943+133_1943+136dup | |
| XR_001742119.2:n.2081+133_2081+136dup | ||
| XR_001742445.1:n.3610_3613dup | ||
| XR_001742446.1:n.1373_1376dup | ||
| NM_001040458.3:c.1943+133_1943+136dup MANE Select | NP_001035548.1:n.1943+133_1943+136dup | |
| NM_001198541.3:c.1943+133_1943+136dup | NP_001185470.1:n.1943+133_1943+136dup | |
| NM_001349244.2:c.1943+133_1943+136dup | NP_001336173.1:n.1943+133_1943+136dup | |
| NM_016442.5:c.1943+133_1943+136dup | NP_057526.3:n.1943+133_1943+136dup |