Linked Data
dbSNP Id:
rs776567279
gnomAD v2:
17-15902791-C-CCCGCGCCCATGGCGCAGCCA
gnomAD v4:
17-15999477-C-CCCGCGCCCATGGCGCAGCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999479_15999498dup , CM000679.2:g.15999479_15999498dup | GRCh38 |
| NC_000017.10:g.15902793_15902812dup , CM000679.1:g.15902793_15902812dup | GRCh37 |
| NC_000017.9:g.15843518_15843537dup | NCBI36 |
| NG_029806.1:g.5100_5119dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399277.6:c.76+22_76+41dup (ZSWIM7) MANE Select | ENSP00000382218.1:n.76+22_76+41dup | |
| ENST00000261647.9:c.-370_-351dup (TTC19) | ENSP00000261647.5:n.-370_-351dup | |
| ENST00000399277.5:c.76+22_76+41dup (ZSWIM7) | ENSP00000382218.1:n.76+22_76+41dup | |
| ENST00000399280.6:n.35+163_35+182dup (ZSWIM7) | ||
| ENST00000460252.5:c.92+6_92+25dup (ZSWIM7) | ENSP00000464463.1:n.92+6_92+25dup | |
| ENST00000460315.5:c.92+6_92+25dup (ZSWIM7) | ENSP00000462590.1:n.92+6_92+25dup | |
| ENST00000472495.5:c.76+22_76+41dup (ZSWIM7) | ENSP00000419138.1:n.76+22_76+41dup | |
| ENST00000474716.5:c.89+9_89+28dup (ZSWIM7) | ENSP00000464500.1:n.89+9_89+28dup | |
| ENST00000476496.5:c.86+6_86+25dup (ZSWIM7) | ENSP00000462208.1:n.86+6_86+25dup | |
| ENST00000486655.5:c.31+22_31+41dup (ZSWIM7) | ENSP00000464371.1:n.31+22_31+41dup | |
| ENST00000486706.6:c.89+9_89+28dup (ZSWIM7) | ENSP00000463327.1:n.89+9_89+28dup | |
| ENST00000490395.5:c.89+9_89+28dup (ZSWIM7) | ENSP00000464605.1:n.89+9_89+28dup | |
| ENST00000491631.5:c.89+9_89+28dup (ZSWIM7) | ENSP00000462598.1:n.89+9_89+28dup | |
| ENST00000495825.6:n.24+163_24+182dup (ZSWIM7) | ||
| ENST00000497719.5:n.54+163_54+182dup (ZSWIM7) | ||
| ENST00000579955.1:c.89+9_89+28dup (ZSWIM7) | ENSP00000463444.1:n.89+9_89+28dup | |
| ENST00000584519.5:c.76+22_76+41dup (ZSWIM7) | ENSP00000463592.1:n.76+22_76+41dup | |
| ENST00000585208.5:c.89+9_89+28dup (ZSWIM7) | ENSP00000464227.1:n.89+9_89+28dup | |
| NM_001042697.1:c.76+22_76+41dup (ZSWIM7) | NP_001036162.1:n.76+22_76+41dup | |
| NM_001042698.1:c.76+22_76+41dup (ZSWIM7) | NP_001036163.1:n.76+22_76+41dup | |
| NM_001271420.1:c.-828_-809dup (TTC19) | NP_001258349.1:n.-828_-809dup | |
| NM_017775.3:c.-370_-351dup (TTC19) | NP_060245.3:n.-370_-351dup | |
| NM_001042697.2:c.76+22_76+41dup (ZSWIM7) MANE Select | NP_001036162.1:n.76+22_76+41dup | |
| NM_001042698.2:c.76+22_76+41dup (ZSWIM7) | NP_001036163.1:n.76+22_76+41dup |