Canonical Allele Identifier: CA1139657774

Gene: KCNJ13 GIGYF2

Linked Data

• ClinVar Variation Id: 943478
• ClinVar RCV Id: RCV001213672
• dbSNP Id: rs1699220334

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232770937_232770946del , CM000664.2:g.232770937_232770946del	GRCh38
NC_000002.11:g.233635647_233635656del , CM000664.1:g.233635647_233635656del	GRCh37
NC_000002.10:g.233343891_233343900del	NCBI36
NG_011847.1:g.78633_78642del
NG_016742.1:g.10621_10630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233826.4:c.418_427del (KCNJ13) MANE Select	ENSP00000233826.3:p.Ile140SerfsTer2
ENST00000373563.9:c.532+9501_532+9510del (GIGYF2) MANE Select	ENSP00000362664.5:n.532+9501_532+9510del
ENST00000424038.2:c.*137+9501_*137+9510del (GIGYF2)	ENSP00000399064.1:n.*137+9501_*137+9510del
ENST00000677450.1:c.13+2532_13+2541del (GIGYF2)	ENSP00000503420.1:n.13+2532_13+2541del
ENST00000677591.1:c.-195+6327_-195+6336del (GIGYF2)	ENSP00000503061.1:n.-195+6327_-195+6336del
ENST00000678230.1:c.25+4958_25+4967del (GIGYF2)	ENSP00000504272.1:n.25+4958_25+4967del
ENST00000678339.1:c.-213+6327_-213+6336del (GIGYF2)	ENSP00000503437.1:n.-213+6327_-213+6336del
ENST00000678466.1:c.-213+2678_-213+2687del (GIGYF2)	ENSP00000504219.1:n.-213+2678_-213+2687del
ENST00000233826.3:c.418_427del (KCNJ13)	ENSP00000233826.3:p.Ile140SerfsTer2
ENST00000373563.8:c.532+9501_532+9510del (GIGYF2)	ENSP00000362664.4:n.532+9501_532+9510del
ENST00000409196.7:c.532+9501_532+9510del (GIGYF2)	ENSP00000387070.3:n.532+9501_532+9510del
ENST00000409451.7:c.533-5475_533-5466del (GIGYF2)	ENSP00000387170.3:n.533-5475_533-5466del
ENST00000409480.5:c.533-5475_533-5466del (GIGYF2)	ENSP00000386765.1:n.533-5475_533-5466del
ENST00000409547.5:c.532+9501_532+9510del (GIGYF2)	ENSP00000386537.1:n.532+9501_532+9510del
ENST00000409779.1:c.224+194_224+203del (KCNJ13)	ENSP00000386408.1:n.224+194_224+203del
ENST00000410029.1:c.418_427del (KCNJ13)	ENSP00000386251.1:p.Ile140SerfsTer2
ENST00000421778.1:c.13+2532_13+2541del (GIGYF2)	ENSP00000390325.1:n.13+2532_13+2541del
ENST00000423659.5:c.379+14603_379+14612del (GIGYF2)	ENSP00000404195.1:n.379+14603_379+14612del
ENST00000424038.1:c.*137+9501_*137+9510del (GIGYF2)	ENSP00000399064.1:n.*137+9501_*137+9510del
ENST00000424414.6:c.-195+6327_-195+6336del (GIGYF2)	ENSP00000401261.2:n.-195+6327_-195+6336del
ENST00000436349.5:c.-213+6327_-213+6336del (GIGYF2)	ENSP00000400076.1:n.-213+6327_-213+6336del
ENST00000438786.1:c.178_187del (KCNJ13)	ENSP00000407284.1:p.Ile60SerfsTer2
ENST00000440945.5:c.532+9501_532+9510del (GIGYF2)	ENSP00000410297.1:n.532+9501_532+9510del
ENST00000444142.1:c.320_329del (KCNJ13)
ENST00000445650.5:c.25+4958_25+4967del (GIGYF2)	ENSP00000392218.1:n.25+4958_25+4967del
ENST00000455139.5:c.-213+2678_-213+2687del (GIGYF2)	ENSP00000395299.1:n.-213+2678_-213+2687del
ENST00000463554.5:n.685-87_685-78del (GIGYF2)
ENST00000629305.2:c.533-5475_533-5466del (GIGYF2)	ENSP00000487548.1:n.533-5475_533-5466del
NM_001103146.1:c.532+9501_532+9510del (GIGYF2)	NP_001096616.1:n.532+9501_532+9510del
NM_001103147.1:c.533-5475_533-5466del (GIGYF2)	NP_001096617.1:n.533-5475_533-5466del
NM_001103148.1:c.532+9501_532+9510del (GIGYF2)	NP_001096618.1:n.532+9501_532+9510del
NM_001172416.1:c.224+194_224+203del (KCNJ13)	NP_001165887.1:n.224+194_224+203del
NM_001172417.1:c.178_187del (KCNJ13)	NP_001165888.1:p.Ile60SerfsTer2
NM_002242.4:c.418_427del (KCNJ13) MANE Select	NP_002233.2:p.Ile140SerfsTer2
NM_015575.3:c.532+9501_532+9510del (GIGYF2)	NP_056390.2:n.532+9501_532+9510del
NR_103492.1:n.645+9501_645+9510del (GIGYF2)
NM_001103146.3:c.532+9501_532+9510del (GIGYF2) MANE Select	NP_001096616.1:n.532+9501_532+9510del
NM_001103147.2:c.533-5475_533-5466del (GIGYF2)	NP_001096617.1:n.533-5475_533-5466del
NM_001103148.2:c.532+9501_532+9510del (GIGYF2)	NP_001096618.1:n.532+9501_532+9510del
NM_015575.4:c.532+9501_532+9510del (GIGYF2)	NP_056390.2:n.532+9501_532+9510del