Canonical Allele Identifier: CA10575674

Gene: KATNB1

Linked Data

• ClinVar Variation Id: 180638
• ClinVar RCV Id: RCV000157599
• dbSNP Id: rs879255517
• MyVariant Identifiers: chr16:g.57785567del (hg19) ; chr16:g.57751655del (hg38)
• PubMed: PMID:25521378

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57751655del , CM000678.2:g.57751655del	GRCh38
NC_000016.9:g.57785567del , CM000678.1:g.57785567del	GRCh37
NC_000016.8:g.56343068del	NCBI36
NG_046947.1:g.20936del

Transcript Alleles

HGVS	Amino-acid change
ENST00000379661.8:c.447del MANE Select	ENSP00000368982.3:p.Val150CysfsTer22
ENST00000379661.7:c.447del	ENSP00000368982.3:p.Val150CysfsTer22
ENST00000562592.5:c.447del	ENSP00000455350.1:p.Val150CysfsTer22
ENST00000563127.1:n.499del
ENST00000566611.5:n.966del
ENST00000566726.5:c.459del	ENSP00000455270.1:p.Val154CysfsTer22
ENST00000569627.1:c.346del	ENSP00000457046.1:p.Arg116ValfsTer?
NM_005886.2:c.447del	NP_005877.2:p.Val150CysfsTer22
XM_005255772.3:c.447del	XP_005255829.1:p.Val150CysfsTer22
XM_006721121.2:c.447del	XP_006721184.1:p.Val150CysfsTer22
XM_006721122.2:c.447del	XP_006721185.1:p.Val150CysfsTer22
XM_006721123.2:c.447del	XP_006721186.1:p.Val150CysfsTer22
XM_011522810.1:c.447del	XP_011521112.1:p.Val150CysfsTer22
XM_005255772.5:c.447del	XP_005255829.1:p.Val150CysfsTer22
XM_006721121.4:c.447del	XP_006721184.1:p.Val150CysfsTer22
XM_006721123.4:c.447del	XP_006721186.1:p.Val150CysfsTer22
XM_011522810.2:c.447del	XP_011521112.1:p.Val150CysfsTer22
XM_017022860.2:c.447del	XP_016878349.1:p.Val150CysfsTer22
XM_017022861.1:c.447del	XP_016878350.1:p.Val150CysfsTer22
XM_017022862.1:c.447del	XP_016878351.1:p.Val150CysfsTer22
XM_017022863.1:c.447del	XP_016878352.1:p.Val150CysfsTer22
XM_017022864.1:c.447del	XP_016878353.1:p.Val150CysfsTer22
NM_005886.3:c.447del MANE Select	NP_005877.2:p.Val150CysfsTer22