Canonical Allele Identifier: CA914354281
Gene: KIDINS220 HGNC NCBI

Linked Data

gnomAD v2: 2-8871551-C-CT
gnomAD v4: 2-8731421-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.8731424dup , CM000664.2:g.8731424dup GRCh38
NC_000002.11:g.8871554dup , CM000664.1:g.8871554dup GRCh37
NC_000002.10:g.8789005dup NCBI36
NG_053168.1:g.111218dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000685097.1:c.4317dup ENSP00000510510.1:p.Asp1440ArgfsTer2
ENST00000686383.1:n.4499dup
ENST00000686906.1:c.*502dup ENSP00000508907.1:n.*502dup
ENST00000687894.1:c.*1986dup ENSP00000509577.1:n.*1986dup
ENST00000687912.1:c.4119dup ENSP00000508455.1:p.Asp1374ArgfsTer2
ENST00000689369.1:c.3882+2022dup ENSP00000509856.1:n.3882+2022dup
ENST00000689852.1:c.3915+2022dup ENSP00000510537.1:n.3915+2022dup
ENST00000691030.1:c.4593dup ENSP00000510148.1:p.Asp1532ArgfsTer2
ENST00000693394.1:c.3882+2022dup ENSP00000509014.1:n.3882+2022dup
ENST00000693432.1:c.4053+2022dup ENSP00000510486.1:n.4053+2022dup
ENST00000693597.1:n.861+2022dup
ENST00000256707.8:c.4614dup MANE Select ENSP00000256707.4:p.Asp1539ArgfsTer2
ENST00000569008.2:c.3882+2022dup ENSP00000491461.1:n.3882+2022dup
ENST00000256707.7:c.4614dup ENSP00000256707.3:p.Asp1539ArgfsTer2
ENST00000473731.5:c.4557dup ENSP00000418974.1:p.Asp1520ArgfsTer2
ENST00000488729.5:c.*4503dup ENSP00000417390.1:n.*4503dup
ENST00000496383.5:c.3123+2022dup ENSP00000420364.1:n.3123+2022dup
NM_020738.2:c.4614dup NP_065789.1:p.Asp1539ArgfsTer2
NM_001348729.1:c.4617dup NP_001335658.1:p.Asp1540ArgfsTer2
NM_001348731.1:c.4560dup NP_001335660.1:p.Asp1521ArgfsTer2
NM_001348732.1:c.4557dup NP_001335661.1:p.Asp1520ArgfsTer2
NM_001348734.1:c.4446dup NP_001335663.1:p.Asp1483ArgfsTer2
NM_001348735.1:c.4443dup NP_001335664.1:p.Asp1482ArgfsTer2
NM_001348736.1:c.4317dup NP_001335665.1:p.Asp1440ArgfsTer2
NM_001348738.1:c.3996+2022dup NP_001335667.1:n.3996+2022dup
NM_001348739.1:c.3885+2022dup NP_001335668.1:n.3885+2022dup
NM_001348740.1:c.3885+2022dup NP_001335669.1:n.3885+2022dup
NM_001348741.1:c.3882+2022dup NP_001335670.1:n.3882+2022dup
NM_001348742.1:c.3882+2022dup NP_001335671.1:n.3882+2022dup
NM_001348743.1:c.3882+2022dup NP_001335672.1:n.3882+2022dup
NM_020738.3:c.4614dup NP_065789.1:p.Asp1539ArgfsTer2
NR_145964.1:n.4252+2022dup
NR_145965.1:n.4078+2022dup
NM_001348729.2:c.4617dup NP_001335658.1:p.Asp1540ArgfsTer2
NM_001348731.2:c.4560dup NP_001335660.1:p.Asp1521ArgfsTer2
NM_001348732.2:c.4557dup NP_001335661.1:p.Asp1520ArgfsTer2
NM_001348734.2:c.4446dup NP_001335663.1:p.Asp1483ArgfsTer2
NM_001348735.2:c.4443dup NP_001335664.1:p.Asp1482ArgfsTer2
NM_001348736.2:c.4317dup NP_001335665.1:p.Asp1440ArgfsTer2
NM_001348738.2:c.3996+2022dup NP_001335667.1:n.3996+2022dup
NM_001348739.2:c.3885+2022dup NP_001335668.1:n.3885+2022dup
NM_001348740.2:c.3885+2022dup NP_001335669.1:n.3885+2022dup
NM_001348741.2:c.3882+2022dup NP_001335670.1:n.3882+2022dup
NM_001348742.2:c.3882+2022dup NP_001335671.1:n.3882+2022dup
NM_001348743.2:c.3882+2022dup NP_001335672.1:n.3882+2022dup
NM_020738.4:c.4614dup MANE Select NP_065789.1:p.Asp1539ArgfsTer2
NR_145964.2:n.4226+2022dup
NR_145965.2:n.4052+2022dup