Canonical Allele Identifier: CA498038530
Gene: ZSWIM7 HGNC NCBI
TTC19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15999592_15999593insG , CM000679.2:g.15999592_15999593insG GRCh38
NC_000017.10:g.15902906_15902907insG , CM000679.1:g.15902906_15902907insG GRCh37
NC_000017.9:g.15843631_15843632insG NCBI36
NG_029806.1:g.5213_5214insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000399277.6:c.2_3insC (ZSWIM7) MANE Select ENSP00000382218.1:p.Met1IlefsTer28
ENST00000261647.9:c.-257_-256insG (TTC19) ENSP00000261647.5:n.-257_-256insG
ENST00000399277.5:c.2_3insC (ZSWIM7) ENSP00000382218.1:p.Met1IlefsTer28
ENST00000399280.6:n.35+67_35+68insC (ZSWIM7)
ENST00000460252.5:c.2_3insC (ZSWIM7) ENSP00000464463.1:p.Met1IlefsTer?
ENST00000460315.5:c.2_3insC (ZSWIM7) ENSP00000462590.1:p.Met1IlefsTer?
ENST00000472495.5:c.2_3insC (ZSWIM7) ENSP00000419138.1:p.Met1IlefsTer28
ENST00000474716.5:c.2_3insC (ZSWIM7) ENSP00000464500.1:p.Met1IlefsTer?
ENST00000486706.6:c.2_3insC (ZSWIM7) ENSP00000463327.1:p.Met1IlefsTer?
ENST00000490395.5:c.2_3insC (ZSWIM7) ENSP00000464605.1:p.Met1IlefsTer?
ENST00000491631.5:c.2_3insC (ZSWIM7) ENSP00000462598.1:p.Met1IlefsTer?
ENST00000495825.6:n.24+67_24+68insC (ZSWIM7)
ENST00000497719.5:n.54+67_54+68insC (ZSWIM7)
ENST00000579955.1:c.2_3insC (ZSWIM7) ENSP00000463444.1:p.Met1IlefsTer?
ENST00000584519.5:c.2_3insC (ZSWIM7) ENSP00000463592.1:p.Met1IlefsTer?
ENST00000585208.5:c.2_3insC (ZSWIM7) ENSP00000464227.1:p.Met1IlefsTer?
NM_001042697.1:c.2_3insC (ZSWIM7) NP_001036162.1:p.Met1IlefsTer28
NM_001042698.1:c.2_3insC (ZSWIM7) NP_001036163.1:p.Met1IlefsTer28
NM_001271420.1:c.-715_-714insG (TTC19) NP_001258349.1:n.-715_-714insG
NM_017775.3:c.-257_-256insG (TTC19) NP_060245.3:n.-257_-256insG
NM_001042697.2:c.2_3insC (ZSWIM7) MANE Select NP_001036162.1:p.Met1IlefsTer28
NM_001042698.2:c.2_3insC (ZSWIM7) NP_001036163.1:p.Met1IlefsTer28