Linked Data
dbSNP Id:
rs1182047766
gnomAD v2:
17-15902776-T-TGCCCGGATGCCCCGCCCGC
gnomAD v4:
17-15999462-T-TGCCCGGATGCCCCGCCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999467_15999485dup , CM000679.2:g.15999467_15999485dup | GRCh38 |
| NC_000017.10:g.15902781_15902799dup , CM000679.1:g.15902781_15902799dup | GRCh37 |
| NC_000017.9:g.15843506_15843524dup | NCBI36 |
| NG_029806.1:g.5088_5106dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399277.6:c.76+38_76+56dup (ZSWIM7) MANE Select | ENSP00000382218.1:n.76+38_76+56dup | |
| ENST00000261647.9:c.-382_-364dup (TTC19) | ENSP00000261647.5:n.-382_-364dup | |
| ENST00000399277.5:c.76+38_76+56dup (ZSWIM7) | ENSP00000382218.1:n.76+38_76+56dup | |
| ENST00000399280.6:n.35+179_35+197dup (ZSWIM7) | ||
| ENST00000460252.5:c.92+22_92+40dup (ZSWIM7) | ENSP00000464463.1:n.92+22_92+40dup | |
| ENST00000460315.5:c.92+22_92+40dup (ZSWIM7) | ENSP00000462590.1:n.92+22_92+40dup | |
| ENST00000472495.5:c.76+38_76+56dup (ZSWIM7) | ENSP00000419138.1:n.76+38_76+56dup | |
| ENST00000474716.5:c.89+25_89+43dup (ZSWIM7) | ENSP00000464500.1:n.89+25_89+43dup | |
| ENST00000476496.5:c.86+22_86+40dup (ZSWIM7) | ENSP00000462208.1:n.86+22_86+40dup | |
| ENST00000486655.5:c.31+38_31+56dup (ZSWIM7) | ENSP00000464371.1:n.31+38_31+56dup | |
| ENST00000486706.6:c.89+25_89+43dup (ZSWIM7) | ENSP00000463327.1:n.89+25_89+43dup | |
| ENST00000490395.5:c.89+25_89+43dup (ZSWIM7) | ENSP00000464605.1:n.89+25_89+43dup | |
| ENST00000491631.5:c.89+25_89+43dup (ZSWIM7) | ENSP00000462598.1:n.89+25_89+43dup | |
| ENST00000495825.6:n.24+179_24+197dup (ZSWIM7) | ||
| ENST00000497719.5:n.54+179_54+197dup (ZSWIM7) | ||
| ENST00000579955.1:c.89+25_89+43dup (ZSWIM7) | ENSP00000463444.1:n.89+25_89+43dup | |
| ENST00000584519.5:c.76+38_76+56dup (ZSWIM7) | ENSP00000463592.1:n.76+38_76+56dup | |
| ENST00000585208.5:c.89+25_89+43dup (ZSWIM7) | ENSP00000464227.1:n.89+25_89+43dup | |
| NM_001042697.1:c.76+38_76+56dup (ZSWIM7) | NP_001036162.1:n.76+38_76+56dup | |
| NM_001042698.1:c.76+38_76+56dup (ZSWIM7) | NP_001036163.1:n.76+38_76+56dup | |
| NM_001271420.1:c.-840_-822dup (TTC19) | NP_001258349.1:n.-840_-822dup | |
| NM_017775.3:c.-382_-364dup (TTC19) | NP_060245.3:n.-382_-364dup | |
| NM_001042697.2:c.76+38_76+56dup (ZSWIM7) MANE Select | NP_001036162.1:n.76+38_76+56dup | |
| NM_001042698.2:c.76+38_76+56dup (ZSWIM7) | NP_001036163.1:n.76+38_76+56dup |