Canonical Allele Identifier: CA1208485213

Gene: KIAA0040

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.175181826_175181827delinsAG , CM000663.2:g.175181826_175181827delinsAG	GRCh38
NC_000001.10:g.175150962_175150963delinsAG , CM000663.1:g.175150962_175150963delinsAG	GRCh37
NC_000001.9:g.173417585_173417586delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423313.6:c.-383-4143_-383-4142delinsCT MANE Select	ENSP00000462172.1:n.-383-4143_-383-4142delinsCT
ENST00000423313.5:c.-383-4143_-383-4142delinsCT	ENSP00000462172.1:n.-383-4143_-383-4142delinsCT
ENST00000444639.5:c.-383-4143_-383-4142delinsCT	ENSP00000463734.1:n.-383-4143_-383-4142delinsCT
ENST00000545251.6:c.-310+10813_-310+10814delinsCT	ENSP00000464040.1:n.-310+10813_-310+10814delinsCT
ENST00000563563.2:n.218-4143_218-4142delinsCT
ENST00000567124.5:n.137-4143_137-4142delinsCT
NM_001162893.1:c.-383-4143_-383-4142delinsCT	NP_001156365.1:n.-383-4143_-383-4142delinsCT
NM_001162894.1:c.-383-4143_-383-4142delinsCT	NP_001156366.1:n.-383-4143_-383-4142delinsCT
NM_001162895.1:c.-310+10813_-310+10814delinsCT	NP_001156367.1:n.-310+10813_-310+10814delinsCT
NM_014656.2:c.-383-4143_-383-4142delinsCT	NP_055471.2:n.-383-4143_-383-4142delinsCT
XM_005245628.3:c.-310+11033_-310+11034delinsCT	XP_005245685.1:n.-310+11033_-310+11034delinsCT
XM_011510182.1:c.-766-4143_-766-4142delinsCT	XP_011508484.1:n.-766-4143_-766-4142delinsCT
XM_011510183.1:c.-841-4143_-841-4142delinsCT	XP_011508485.1:n.-841-4143_-841-4142delinsCT
XM_011510184.1:c.-458-4143_-458-4142delinsCT	XP_011508486.1:n.-458-4143_-458-4142delinsCT
NM_001319230.1:c.-310+11033_-310+11034delinsCT	NP_001306159.1:n.-310+11033_-310+11034delinsCT
NM_001319231.1:c.-458-4143_-458-4142delinsCT	NP_001306160.1:n.-458-4143_-458-4142delinsCT
XM_017002911.2:c.-310+10813_-310+10814delinsCT	XP_016858400.1:n.-310+10813_-310+10814delinsCT
NM_014656.3:c.-383-4143_-383-4142delinsCT MANE Select	NP_055471.2:n.-383-4143_-383-4142delinsCT
NM_001162893.2:c.-383-4143_-383-4142delinsCT	NP_001156365.1:n.-383-4143_-383-4142delinsCT
NM_001162894.2:c.-383-4143_-383-4142delinsCT	NP_001156366.1:n.-383-4143_-383-4142delinsCT
NM_001162895.2:c.-310+10813_-310+10814delinsCT	NP_001156367.1:n.-310+10813_-310+10814delinsCT
NM_001319230.2:c.-310+11033_-310+11034delinsCT	NP_001306159.1:n.-310+11033_-310+11034delinsCT
NM_001319231.2:c.-458-4143_-458-4142delinsCT	NP_001306160.1:n.-458-4143_-458-4142delinsCT