Canonical Allele Identifier: CA10575854

Gene: VPS13C

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.62013057_62013058insTCTG , CM000677.2:g.62013057_62013058insTCTG	GRCh38
NC_000015.9:g.62305256_62305257insTCTG , CM000677.1:g.62305256_62305257insTCTG	GRCh37
NC_000015.8:g.60092548_60092549insTCTG	NCBI36
NG_027782.1:g.52408_52409insCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644861.2:c.806_807insCAGA MANE Select	ENSP00000493560.2:p.Arg269SerfsTer14
ENST00000645819.1:c.806_807insCAGA	ENSP00000496179.1:p.Arg269SerfsTer14
ENST00000249837.7:c.677_678insCAGA	ENSP00000249837.3:p.Arg226SerfsTer14
ENST00000261517.9:c.806_807insCAGA	ENSP00000261517.5:p.Arg269SerfsTer14
ENST00000395896.8:c.806_807insCAGA	ENSP00000379233.4:p.Arg269SerfsTer14
ENST00000395898.3:c.677_678insCAGA	ENSP00000379235.3:p.Arg226SerfsTer14
NM_001018088.2:c.806_807insCAGA	NP_001018098.1:p.Arg269SerfsTer14
NM_017684.4:c.677_678insCAGA	NP_060154.3:p.Arg226SerfsTer14
NM_018080.3:c.677_678insCAGA	NP_060550.2:p.Arg226SerfsTer14
NM_020821.2:c.806_807insCAGA	NP_065872.1:p.Arg269SerfsTer14
XM_011521713.1:c.806_807insCAGA	XP_011520015.1:p.Arg269SerfsTer14
XM_011521714.1:c.806_807insCAGA	XP_011520016.1:p.Arg269SerfsTer14
XR_931854.1:n.858_859insCAGA
XR_931855.1:n.858_859insCAGA
XM_011521713.3:c.806_807insCAGA	XP_011520015.1:p.Arg269SerfsTer14
XM_011521714.2:c.806_807insCAGA	XP_011520016.1:p.Arg269SerfsTer14
XR_001751332.1:n.858_859insCAGA
XR_931855.2:n.858_859insCAGA
NM_017684.5:c.677_678insCAGA	NP_060154.3:p.Arg226SerfsTer14
NM_020821.3:c.806_807insCAGA MANE Select	NP_065872.1:p.Arg269SerfsTer14
NM_001018088.3:c.806_807insCAGA	NP_001018098.1:p.Arg269SerfsTer14
NM_018080.4:c.677_678insCAGA	NP_060550.2:p.Arg226SerfsTer14