Canonical Allele Identifier: CA249858

Gene: KCTD3

Linked Data

• ClinVar Variation Id: 183346
• ClinVar RCV Id: RCV000162179
• dbSNP Id: rs730882243
• MyVariant Identifiers: chr1:g.215775441_215775478del (hg19) ; chr1:g.215602099_215602136del (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215602099_215602136del , CM000663.2:g.215602099_215602136del	GRCh38
NC_000001.10:g.215775441_215775478del , CM000663.1:g.215775441_215775478del	GRCh37
NC_000001.9:g.213842064_213842101del	NCBI36
NG_047148.1:g.39915_39952del

Transcript Alleles

HGVS	Amino-acid change
ENST00000259154.9:c.1036_1073del MANE Select	ENSP00000259154.2:p.Pro346ThrfsTer4
ENST00000259154.8:c.1036_1073del	ENSP00000259154.2:p.Pro346ThrfsTer4
NM_016121.3:c.1036_1073del	NP_057205.2:p.Pro346ThrfsTer4
XM_005273156.1:c.1036_1073del	XP_005273213.1:p.Pro346ThrfsTer4
XM_005273158.1:c.730_767del	XP_005273215.1:p.Pro244ThrfsTer4
NM_001319294.1:c.1036_1073del	NP_001306223.1:p.Pro346ThrfsTer4
NM_001319295.1:c.730_767del	NP_001306224.1:p.Pro244ThrfsTer4
NM_016121.4:c.1036_1073del	NP_057205.2:p.Pro346ThrfsTer4
XM_005273158.2:c.730_767del	XP_005273215.1:p.Pro244ThrfsTer4
NM_016121.5:c.1036_1073del MANE Select	NP_057205.2:p.Pro346ThrfsTer4
NM_001319294.2:c.1036_1073del	NP_001306223.1:p.Pro346ThrfsTer4
NM_001319295.2:c.730_767del	NP_001306224.1:p.Pro244ThrfsTer4