Canonical Allele Identifier: CA1208485274
Gene: KIAA0040 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.175181972_175181973delinsTC , CM000663.2:g.175181972_175181973delinsTC GRCh38
NC_000001.10:g.175151108_175151109delinsTC , CM000663.1:g.175151108_175151109delinsTC GRCh37
NC_000001.9:g.173417731_173417732delinsTC NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000423313.6:c.-383-4289_-383-4288delinsGA MANE Select ENSP00000462172.1:n.-383-4289_-383-4288de...
ENST00000423313.5:c.-383-4289_-383-4288delinsGA ENSP00000462172.1:n.-383-4289_-383-4288de...
ENST00000444639.5:c.-383-4289_-383-4288delinsGA ENSP00000463734.1:n.-383-4289_-383-4288de...
ENST00000545251.6:c.-310+10667_-310+10668delinsGA ENSP00000464040.1:n.-310+10667_-310+10668...
ENST00000563563.2:n.218-4289_218-4288delinsGA
ENST00000567124.5:n.137-4289_137-4288delinsGA
NM_001162893.1:c.-383-4289_-383-4288delinsGA NP_001156365.1:n.-383-4289_-383-4288delin...
NM_001162894.1:c.-383-4289_-383-4288delinsGA NP_001156366.1:n.-383-4289_-383-4288delin...
NM_001162895.1:c.-310+10667_-310+10668delinsGA NP_001156367.1:n.-310+10667_-310+10668del...
NM_014656.2:c.-383-4289_-383-4288delinsGA NP_055471.2:n.-383-4289_-383-4288delinsGA...
XM_005245628.3:c.-310+10887_-310+10888delinsGA XP_005245685.1:n.-310+10887_-310+10888del...
XM_011510182.1:c.-766-4289_-766-4288delinsGA XP_011508484.1:n.-766-4289_-766-4288delin...
XM_011510183.1:c.-841-4289_-841-4288delinsGA XP_011508485.1:n.-841-4289_-841-4288delin...
XM_011510184.1:c.-458-4289_-458-4288delinsGA XP_011508486.1:n.-458-4289_-458-4288delin...
NM_001319230.1:c.-310+10887_-310+10888delinsGA NP_001306159.1:n.-310+10887_-310+10888del...
NM_001319231.1:c.-458-4289_-458-4288delinsGA NP_001306160.1:n.-458-4289_-458-4288delin...
XM_017002911.2:c.-310+10667_-310+10668delinsGA XP_016858400.1:n.-310+10667_-310+10668del...
NM_014656.3:c.-383-4289_-383-4288delinsGA MANE Select NP_055471.2:n.-383-4289_-383-4288delinsGA...
NM_001162893.2:c.-383-4289_-383-4288delinsGA NP_001156365.1:n.-383-4289_-383-4288delin...
NM_001162894.2:c.-383-4289_-383-4288delinsGA NP_001156366.1:n.-383-4289_-383-4288delin...
NM_001162895.2:c.-310+10667_-310+10668delinsGA NP_001156367.1:n.-310+10667_-310+10668del...
NM_001319230.2:c.-310+10887_-310+10888delinsGA NP_001306159.1:n.-310+10887_-310+10888del...
NM_001319231.2:c.-458-4289_-458-4288delinsGA NP_001306160.1:n.-458-4289_-458-4288delin...