Canonical Allele Identifier: CA7206371
Community Standard Title: NM_001329943.3(KIAA0586):c.4324-2A>G
Gene: KIAA0586 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58512520A>G , CM000676.2:g.58512520A>G GRCh38
NC_000014.8:g.58979238A>G , CM000676.1:g.58979238A>G GRCh37
NC_000014.7:g.58048991A>G NCBI36
NG_051335.2:g.90136A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001329943.3:c.4324-2A>G MANE Select NP_001316872.1:n.4324-2A>G
ENST00000652326.2:c.4324-2A>G MANE Select ENSP00000498929.1:n.4324-2A>G
NM_001244189.1:c.4483-2A>G NP_001231118.1:n.4483-2A>G
NM_001244189.2:c.4483-2A>G NP_001231118.1:n.4483-2A>G
NM_001244190.1:c.4279-2A>G NP_001231119.1:n.4279-2A>G
NM_001244190.2:c.4279-2A>G NP_001231119.1:n.4279-2A>G
NM_001244191.1:c.4069-2A>G NP_001231120.1:n.4069-2A>G
NM_001244191.2:c.4069-2A>G NP_001231120.1:n.4069-2A>G
NM_001244192.1:c.4192-2A>G NP_001231121.1:n.4192-2A>G
NM_001244192.2:c.4192-2A>G NP_001231121.1:n.4192-2A>G
NM_001244193.1:c.3904-2A>G NP_001231122.1:n.3904-2A>G
NM_001244193.2:c.3904-2A>G NP_001231122.1:n.3904-2A>G
NM_001329943.2:c.4324-2A>G NP_001316872.1:n.4324-2A>G
NM_001329944.1:c.4324-2A>G NP_001316873.1:n.4324-2A>G
NM_001329944.2:c.4324-2A>G NP_001316873.1:n.4324-2A>G
NM_001329945.1:c.4069-2A>G NP_001316874.1:n.4069-2A>G
NM_001329945.2:c.4069-2A>G NP_001316874.1:n.4069-2A>G
NM_001329946.1:c.4324-2A>G NP_001316875.1:n.4324-2A>G
NM_001329946.2:c.4324-2A>G NP_001316875.1:n.4324-2A>G
NM_001329947.1:c.4192-2A>G NP_001316876.1:n.4192-2A>G
NM_001329947.2:c.4192-2A>G NP_001316876.1:n.4192-2A>G
NM_001364700.1:c.4069-2A>G NP_001351629.1:n.4069-2A>G
NM_001364701.1:c.4069-2A>G NP_001351630.1:n.4069-2A>G
NM_001364701.2:c.4069-2A>G NP_001351630.1:n.4069-2A>G
NM_014749.3:c.4096-2A>G NP_055564.3:n.4096-2A>G
NM_014749.4:c.4096-2A>G NP_055564.3:n.4096-2A>G
NM_014749.5:c.4096-2A>G NP_055564.3:n.4096-2A>G
ENST00000261244.9:c.4096-2A>G ENSP00000261244.5:n.4096-2A>G
ENST00000354386.10:c.4483-2A>G ENSP00000346359.6:n.4483-2A>G
ENST00000423743.7:c.4192-2A>G ENSP00000399427.3:n.4192-2A>G
ENST00000538571.6:n.3914-2A>G
ENST00000555397.1:c.370-2A>G ENSP00000451356.1:n.370-2A>G
ENST00000556134.5:c.4192-2A>G ENSP00000452351.2:n.4192-2A>G
ENST00000557392.1:n.140-2A>G
ENST00000619416.4:c.4279-2A>G ENSP00000478083.1:n.4279-2A>G
ENST00000619722.4:c.4069-2A>G ENSP00000481936.1:n.4069-2A>G
ENST00000619722.5:c.4069-2A>G ENSP00000481936.1:n.4069-2A>G
ENST00000650845.1:n.4789-2A>G
ENST00000650904.1:c.4243-2A>G ENSP00000498606.1:n.4243-2A>G
ENST00000651759.1:c.3374-2A>G ENSP00000498415.1:n.3374-2A>G
ENST00000651852.1:c.1843-2A>G ENSP00000498990.1:n.1843-2A>G
ENST00000651937.1:c.*2659-2A>G ENSP00000498785.1:n.*2659-2A>G
ENST00000652414.1:c.2428-2A>G ENSP00000498397.1:n.2428-2A>G
ENST00000652732.1:c.*3809-2A>G ENSP00000498799.1:n.*3809-2A>G
XM_024449779.1:c.4447-2A>G XP_024305547.1:n.4447-2A>G
XM_024449780.1:c.4348-2A>G XP_024305548.1:n.4348-2A>G
XM_024449781.1:c.4447-2A>G XP_024305549.1:n.4447-2A>G
XM_024449782.1:c.4093-2A>G XP_024305550.1:n.4093-2A>G
XM_024449783.1:c.4093-2A>G XP_024305551.1:n.4093-2A>G
XM_024449784.1:c.4093-2A>G XP_024305552.1:n.4093-2A>G
XM_024449785.1:c.4069-2A>G XP_024305553.1:n.4069-2A>G
XM_024449787.1:c.3928-2A>G XP_024305555.1:n.3928-2A>G
XM_024449788.1:c.3904-2A>G XP_024305556.1:n.3904-2A>G
XM_024449789.1:c.3904-2A>G XP_024305557.1:n.3904-2A>G
XM_024449791.1:c.4348-2A>G XP_024305559.1:n.4348-2A>G