Canonical Allele Identifier: CA1519342

Gene: KIDINS220

Linked Data

• dbSNP Id: rs367620717
• ExAC: 2:8871555 G / C
• gnomAD v2: 2-8871555-G-C
• gnomAD v3: 2-8731425-G-C
• gnomAD v4: 2-8731425-G-C
• MyVariant Identifiers: chr2:g.8871555G>C (hg19) ; chr2:g.8731425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.8731425G>C , CM000664.2:g.8731425G>C	GRCh38
NC_000002.11:g.8871555G>C , CM000664.1:g.8871555G>C	GRCh37
NC_000002.10:g.8789006G>C	NCBI36
NG_053168.1:g.111215C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000685097.1:c.4314C>G	ENSP00000510510.1:p.Leu1438=
ENST00000686383.1:n.4496C>G
ENST00000686906.1:c.*499C>G	ENSP00000508907.1:n.*499C>G
ENST00000687894.1:c.*1983C>G	ENSP00000509577.1:n.*1983C>G
ENST00000687912.1:c.4116C>G	ENSP00000508455.1:p.Leu1372=
ENST00000689369.1:c.3882+2019C>G	ENSP00000509856.1:n.3882+2019C>G
ENST00000689852.1:c.3915+2019C>G	ENSP00000510537.1:n.3915+2019C>G
ENST00000691030.1:c.4590C>G	ENSP00000510148.1:p.Leu1530=
ENST00000693394.1:c.3882+2019C>G	ENSP00000509014.1:n.3882+2019C>G
ENST00000693432.1:c.4053+2019C>G	ENSP00000510486.1:n.4053+2019C>G
ENST00000693597.1:n.861+2019C>G
ENST00000256707.8:c.4611C>G MANE Select	ENSP00000256707.4:p.Leu1537=
ENST00000569008.2:c.3882+2019C>G	ENSP00000491461.1:n.3882+2019C>G
ENST00000256707.7:c.4611C>G	ENSP00000256707.3:p.Leu1537=
ENST00000473731.5:c.4554C>G	ENSP00000418974.1:p.Leu1518=
ENST00000488729.5:c.*4500C>G	ENSP00000417390.1:n.*4500C>G
ENST00000496383.5:c.3123+2019C>G	ENSP00000420364.1:n.3123+2019C>G
NM_020738.2:c.4611C>G	NP_065789.1:p.Leu1537=
NM_001348729.1:c.4614C>G	NP_001335658.1:p.Leu1538=
NM_001348731.1:c.4557C>G	NP_001335660.1:p.Leu1519=
NM_001348732.1:c.4554C>G	NP_001335661.1:p.Leu1518=
NM_001348734.1:c.4443C>G	NP_001335663.1:p.Leu1481=
NM_001348735.1:c.4440C>G	NP_001335664.1:p.Leu1480=
NM_001348736.1:c.4314C>G	NP_001335665.1:p.Leu1438=
NM_001348738.1:c.3996+2019C>G	NP_001335667.1:n.3996+2019C>G
NM_001348739.1:c.3885+2019C>G	NP_001335668.1:n.3885+2019C>G
NM_001348740.1:c.3885+2019C>G	NP_001335669.1:n.3885+2019C>G
NM_001348741.1:c.3882+2019C>G	NP_001335670.1:n.3882+2019C>G
NM_001348742.1:c.3882+2019C>G	NP_001335671.1:n.3882+2019C>G
NM_001348743.1:c.3882+2019C>G	NP_001335672.1:n.3882+2019C>G
NM_020738.3:c.4611C>G	NP_065789.1:p.Leu1537=
NR_145964.1:n.4252+2019C>G
NR_145965.1:n.4078+2019C>G
NM_001348729.2:c.4614C>G	NP_001335658.1:p.Leu1538=
NM_001348731.2:c.4557C>G	NP_001335660.1:p.Leu1519=
NM_001348732.2:c.4554C>G	NP_001335661.1:p.Leu1518=
NM_001348734.2:c.4443C>G	NP_001335663.1:p.Leu1481=
NM_001348735.2:c.4440C>G	NP_001335664.1:p.Leu1480=
NM_001348736.2:c.4314C>G	NP_001335665.1:p.Leu1438=
NM_001348738.2:c.3996+2019C>G	NP_001335667.1:n.3996+2019C>G
NM_001348739.2:c.3885+2019C>G	NP_001335668.1:n.3885+2019C>G
NM_001348740.2:c.3885+2019C>G	NP_001335669.1:n.3885+2019C>G
NM_001348741.2:c.3882+2019C>G	NP_001335670.1:n.3882+2019C>G
NM_001348742.2:c.3882+2019C>G	NP_001335671.1:n.3882+2019C>G
NM_001348743.2:c.3882+2019C>G	NP_001335672.1:n.3882+2019C>G
NM_020738.4:c.4611C>G MANE Select	NP_065789.1:p.Leu1537=
NR_145964.2:n.4226+2019C>G
NR_145965.2:n.4052+2019C>G