Canonical Allele Identifier: CA1434851324
Gene: STX18 HGNC NCBI

Linked Data

dbSNP Id: rs1730662212

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.4524527_4524528insAA , CM000666.2:g.4524527_4524528insAA GRCh38
NC_000004.11:g.4526254_4526255insAA , CM000666.1:g.4526254_4526255insAA GRCh37
NC_000004.10:g.4577155_4577156insAA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306200.7:c.168+17269_168+17270insTT MANE Select ENSP00000305810.2:n.168+17269_168+17270insTT
ENST00000306200.6:c.168+17269_168+17270insTT ENSP00000305810.2:n.168+17269_168+17270insTT
ENST00000505286.5:c.168+17269_168+17270insTT ENSP00000426648.1:n.168+17269_168+17270insTT
ENST00000507908.5:c.-76+17632_-76+17633insTT ENSP00000422376.1:n.-76+17632_-76+17633insTT
ENST00000512780.2:n.235+17269_235+17270insTT
NM_016930.2:c.168+17269_168+17270insTT NP_058626.1:n.168+17269_168+17270insTT
XM_011513479.1:c.168+17269_168+17270insTT XP_011511781.1:n.168+17269_168+17270insTT
XM_011513480.1:c.168+17269_168+17270insTT XP_011511782.1:n.168+17269_168+17270insTT
XM_011513481.1:c.168+17269_168+17270insTT XP_011511783.1:n.168+17269_168+17270insTT
XM_011513482.1:c.168+17269_168+17270insTT XP_011511784.1:n.168+17269_168+17270insTT
XM_011513483.1:c.168+17269_168+17270insTT XP_011511785.1:n.168+17269_168+17270insTT
XM_011513485.1:c.-76+17632_-76+17633insTT XP_011511787.1:n.-76+17632_-76+17633insTT
XR_924956.1:n.231+17269_231+17270insTT
XR_924957.1:n.231+17269_231+17270insTT
XR_924958.1:n.231+17269_231+17270insTT
NM_001346281.1:c.168+17269_168+17270insTT NP_001333210.1:n.168+17269_168+17270insTT
NM_001346282.1:c.-76+17632_-76+17633insTT NP_001333211.1:n.-76+17632_-76+17633insTT
NM_016930.3:c.168+17269_168+17270insTT NP_058626.1:n.168+17269_168+17270insTT
NR_144414.1:n.270+17269_270+17270insTT
XM_017008296.1:c.168+17269_168+17270insTT XP_016863785.1:n.168+17269_168+17270insTT
XM_017008298.1:c.168+17269_168+17270insTT XP_016863787.1:n.168+17269_168+17270insTT
XR_001741239.1:n.231+17269_231+17270insTT
XR_001741564.1:n.3915_3916insTT
NM_016930.4:c.168+17269_168+17270insTT MANE Select NP_058626.1:n.168+17269_168+17270insTT
NM_001346281.2:c.168+17269_168+17270insTT NP_001333210.1:n.168+17269_168+17270insTT
NM_001346282.2:c.-76+17632_-76+17633insTT NP_001333211.1:n.-76+17632_-76+17633insTT
NR_144414.2:n.252+17269_252+17270insTT