Canonical Allele Identifier: CA2580088285

Gene: KIAA0586

Linked Data

• ClinVar Variation Id: 1899465
• ClinVar RCV Id: RCV002570315

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.58444021_58444031del , CM000676.2:g.58444021_58444031del	GRCh38
NC_000014.8:g.58910739_58910749del , CM000676.1:g.58910739_58910749del	GRCh37
NC_000014.7:g.57980492_57980502del	NCBI36
NG_051335.2:g.21637_21647del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555203.6:n.343_353del
ENST00000619722.5:c.398_408del	ENSP00000481936.1:p.Asp133AlafsTer21
ENST00000650845.1:n.1199_1209del
ENST00000650904.1:c.653_663del	ENSP00000498606.1:p.Asp218AlafsTer21
ENST00000651937.1:c.608_618del	ENSP00000498785.1:p.Asp203AlafsTer21
ENST00000652120.1:n.559_569del
ENST00000652326.2:c.653_663del MANE Select	ENSP00000498929.1:p.Asp218AlafsTer21
ENST00000652732.1:c.*219_*229del	ENSP00000498799.1:n.*219_*229del
ENST00000674802.1:n.885_895del
ENST00000261244.9:c.653_663del	ENSP00000261244.5:p.Asp218AlafsTer21
ENST00000354386.10:c.812_822del	ENSP00000346359.6:p.Asp271AlafsTer21
ENST00000423743.7:c.521_531del	ENSP00000399427.3:p.Asp174AlafsTer21
ENST00000538571.6:n.243_253del
ENST00000555833.5:c.398_408del	ENSP00000450855.1:p.Asp133AlafsTer21
ENST00000556134.5:c.521_531del	ENSP00000452351.2:p.Asp174AlafsTer21
ENST00000557590.5:n.616_626del
ENST00000619416.4:c.608_618del	ENSP00000478083.1:p.Asp203AlafsTer21
ENST00000619722.4:c.398_408del	ENSP00000481936.1:p.Asp133AlafsTer21
NM_001244189.1:c.812_822del	NP_001231118.1:p.Asp271AlafsTer21
NM_001244190.1:c.608_618del	NP_001231119.1:p.Asp203AlafsTer21
NM_001244191.1:c.398_408del	NP_001231120.1:p.Asp133AlafsTer21
NM_001244192.1:c.521_531del	NP_001231121.1:p.Asp174AlafsTer21
NM_001244193.1:c.233_243del	NP_001231122.1:p.Asp78AlafsTer21
NM_014749.3:c.653_663del	NP_055564.3:p.Asp218AlafsTer21
NM_001329943.2:c.653_663del	NP_001316872.1:p.Asp218AlafsTer21
NM_001329944.1:c.653_663del	NP_001316873.1:p.Asp218AlafsTer21
NM_001329945.1:c.398_408del	NP_001316874.1:p.Asp133AlafsTer21
NM_001329946.1:c.653_663del	NP_001316875.1:p.Asp218AlafsTer21
NM_001329947.1:c.653_663del	NP_001316876.1:p.Asp218AlafsTer21
NM_001364700.1:c.398_408del	NP_001351629.1:p.Asp133AlafsTer21
NM_001364701.1:c.398_408del	NP_001351630.1:p.Asp133AlafsTer21
NM_014749.4:c.653_663del	NP_055564.3:p.Asp218AlafsTer21
XM_024449779.1:c.776_786del	XP_024305547.1:p.Asp259AlafsTer21
XM_024449780.1:c.653_663del	XP_024305548.1:p.Asp218AlafsTer21
XM_024449781.1:c.776_786del	XP_024305549.1:p.Asp259AlafsTer21
XM_024449782.1:c.398_408del	XP_024305550.1:p.Asp133AlafsTer21
XM_024449783.1:c.398_408del	XP_024305551.1:p.Asp133AlafsTer21
XM_024449784.1:c.398_408del	XP_024305552.1:p.Asp133AlafsTer21
XM_024449785.1:c.398_408del	XP_024305553.1:p.Asp133AlafsTer21
XM_024449787.1:c.257_267del	XP_024305555.1:p.Asp86AlafsTer21
XM_024449788.1:c.233_243del	XP_024305556.1:p.Asp78AlafsTer21
XM_024449789.1:c.233_243del	XP_024305557.1:p.Asp78AlafsTer21
XM_024449791.1:c.653_663del	XP_024305559.1:p.Asp218AlafsTer21
NM_001244189.2:c.812_822del	NP_001231118.1:p.Asp271AlafsTer21
NM_001244190.2:c.608_618del	NP_001231119.1:p.Asp203AlafsTer21
NM_001244192.2:c.521_531del	NP_001231121.1:p.Asp174AlafsTer21
NM_001329943.3:c.653_663del MANE Select	NP_001316872.1:p.Asp218AlafsTer21
NM_001329944.2:c.653_663del	NP_001316873.1:p.Asp218AlafsTer21
NM_001329945.2:c.398_408del	NP_001316874.1:p.Asp133AlafsTer21
NM_001329946.2:c.653_663del	NP_001316875.1:p.Asp218AlafsTer21
NM_001329947.2:c.653_663del	NP_001316876.1:p.Asp218AlafsTer21
NM_001364701.2:c.398_408del	NP_001351630.1:p.Asp133AlafsTer21
NM_014749.5:c.653_663del	NP_055564.3:p.Asp218AlafsTer21
NM_001244191.2:c.398_408del	NP_001231120.1:p.Asp133AlafsTer21
NM_001244193.2:c.233_243del	NP_001231122.1:p.Asp78AlafsTer21