Canonical Allele Identifier: CA2697547797
Gene: KIDINS220 HGNC NCBI

Linked Data

ClinVar Variation Id: 2762222
ClinVar RCV Id: RCV003569977

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.8731525del , CM000664.2:g.8731525del GRCh38
NC_000002.11:g.8871655del , CM000664.1:g.8871655del GRCh37
NC_000002.10:g.8789106del NCBI36
NG_053168.1:g.111115del

Transcript Alleles

HGVS Amino-acid change
ENST00000685097.1:c.4214del ENSP00000510510.1:p.Gln1405ArgfsTer4
ENST00000686383.1:n.4396del
ENST00000686906.1:c.*399del ENSP00000508907.1:n.*399del
ENST00000687894.1:c.*1883del ENSP00000509577.1:n.*1883del
ENST00000687912.1:c.4016del ENSP00000508455.1:p.Gln1339ArgfsTer4
ENST00000689369.1:c.3882+1919del ENSP00000509856.1:n.3882+1919del
ENST00000689852.1:c.3915+1919del ENSP00000510537.1:n.3915+1919del
ENST00000691030.1:c.4490del ENSP00000510148.1:p.Gln1497ArgfsTer4
ENST00000693394.1:c.3882+1919del ENSP00000509014.1:n.3882+1919del
ENST00000693432.1:c.4053+1919del ENSP00000510486.1:n.4053+1919del
ENST00000693597.1:n.861+1919del
ENST00000256707.8:c.4511del MANE Select ENSP00000256707.4:p.Gln1504ArgfsTer4
ENST00000569008.2:c.3882+1919del ENSP00000491461.1:n.3882+1919del
ENST00000256707.7:c.4511del ENSP00000256707.3:p.Gln1504ArgfsTer4
ENST00000473731.5:c.4454del ENSP00000418974.1:p.Gln1485ArgfsTer4
ENST00000488729.5:c.*4400del ENSP00000417390.1:n.*4400del
ENST00000496383.5:c.3123+1919del ENSP00000420364.1:n.3123+1919del
NM_020738.2:c.4511del NP_065789.1:p.Gln1504ArgfsTer4
NM_001348729.1:c.4514del NP_001335658.1:p.Gln1505ArgfsTer4
NM_001348731.1:c.4457del NP_001335660.1:p.Gln1486ArgfsTer4
NM_001348732.1:c.4454del NP_001335661.1:p.Gln1485ArgfsTer4
NM_001348734.1:c.4343del NP_001335663.1:p.Gln1448ArgfsTer4
NM_001348735.1:c.4340del NP_001335664.1:p.Gln1447ArgfsTer4
NM_001348736.1:c.4214del NP_001335665.1:p.Gln1405ArgfsTer4
NM_001348738.1:c.3996+1919del NP_001335667.1:n.3996+1919del
NM_001348739.1:c.3885+1919del NP_001335668.1:n.3885+1919del
NM_001348740.1:c.3885+1919del NP_001335669.1:n.3885+1919del
NM_001348741.1:c.3882+1919del NP_001335670.1:n.3882+1919del
NM_001348742.1:c.3882+1919del NP_001335671.1:n.3882+1919del
NM_001348743.1:c.3882+1919del NP_001335672.1:n.3882+1919del
NM_020738.3:c.4511del NP_065789.1:p.Gln1504ArgfsTer4
NR_145964.1:n.4252+1919del
NR_145965.1:n.4078+1919del
NM_001348729.2:c.4514del NP_001335658.1:p.Gln1505ArgfsTer4
NM_001348731.2:c.4457del NP_001335660.1:p.Gln1486ArgfsTer4
NM_001348732.2:c.4454del NP_001335661.1:p.Gln1485ArgfsTer4
NM_001348734.2:c.4343del NP_001335663.1:p.Gln1448ArgfsTer4
NM_001348735.2:c.4340del NP_001335664.1:p.Gln1447ArgfsTer4
NM_001348736.2:c.4214del NP_001335665.1:p.Gln1405ArgfsTer4
NM_001348738.2:c.3996+1919del NP_001335667.1:n.3996+1919del
NM_001348739.2:c.3885+1919del NP_001335668.1:n.3885+1919del
NM_001348740.2:c.3885+1919del NP_001335669.1:n.3885+1919del
NM_001348741.2:c.3882+1919del NP_001335670.1:n.3882+1919del
NM_001348742.2:c.3882+1919del NP_001335671.1:n.3882+1919del
NM_001348743.2:c.3882+1919del NP_001335672.1:n.3882+1919del
NM_020738.4:c.4511del MANE Select NP_065789.1:p.Gln1504ArgfsTer4
NR_145964.2:n.4226+1919del
NR_145965.2:n.4052+1919del